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Hello, i am wondering if maple syrup disease may have other symptoms other than the smell of the urine the reason i ask is because my little sister has smelt like maple syrup since she was born 26 years ago and its not because she eats pancakes and my five year old has smelt like maplesyrup since she was 5 months old i mostly smell it from moth secretions from both of themj weirdly enough they look exactly alike and act the same i know no corralation in that aspect but i cant get over the smell being the same they also both have gi problems my sister has siliac disease and my daughter had small bowel resec operations by any chance could there be something i should have them both tested for ? or it is just a really weird coincidence do you think? thank you for your time View Answer |
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Hi,I have had two babies with Pyruvate Carboxylase Deficiency; they both died at 3 months. I had a miscarriage and then a baby diagnosed with microcephaly. She got sick and died of 'acidosis'. We consulted with a Geneticist and were told it was not genetic. We had a second baby and he was born normal, but he had feeding problems and he also had acidocis; this time he was dignosed with Pyruvate Carboxylase Deficiency. I want to know how my husband and I can get tested. I was told and based on some 'research' that I've done that we both carry a 'bad' gene, so the question is, is it safe to get 'artificial inseminated' from a different 'sperm'??? View Answer |
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I am undergoing IVF, PGD was suggested due to AMA (I'm 42 3/4 yo). However, my biggest concern (and fear) is that my husband may carry the gene for Methylmalonic acidemia. Could this disorder be detected should I decide to do PGD? If I decide not to do PGD, is there a chance the child could have the disorder, or just be a carrier? View Answer |
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I have four children. My two older boys have ASA. They were diagnosed when they were 8 and 10. They have the late onset. At that time I was told that my daughter and younger son were carriers.
My daughter just found out she is pregnant and is asking me what kind of testing can be done. My thought is that her husband should have a blood test to determine if he is a carrier, then they will not have to go through this with each child they have. She said her doctor talked liked the testing should be done on the newborn.
What would be best since we know for certain the mother is a carrier? View Answer |
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2009-11-17 |
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I'm doing a research project about rare disorders. My teacher assigned me to research about PKU. Well, I don't know much about it. Can you tell me some good information about PKU? Thanks.
P.S. I'm in 7th grade. View Answer |
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2009-11-13 |
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Hi, my son is 6.5 months and has some signs of MSUD - urine smells like maple syrup recently, poor growth, poor feeding (5% of weight & height for his age), some recent vomiting. My pediatrician said that he was screened for the condition when he was born but I've read that varient forms may not be detectable via newborn screening - is this true? I'm wondering if I should be concerned and suggest that he be tested again? View Answer |
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2009-11-06 |
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if a sister of a boy who has the full blown disease has
been tested and doesnt have the gene, does that mean she is clear or can she still be a carrier. when she get married and has children what are the chances of her having children with maple syrup disorder or them being carriers.
thankyou View Answer |
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2009-11-03 |
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Please tell me the adverse reactions, conditions or problems associated with, if any, administering hydroxoccobalamin that had expired 1 week previously to a patient with methymalonic acidemia. Thank you for your time. View Answer |
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2009-10-26 |
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Hi...
My daughter is 10 mos.old and was born with macrocephaly. She is currently undergoing genetic testing for what is thought to be a metabolic disorder. She is very behind physically, she has just started sitting up in the past 2 weeks. They are suspecting "glutaric aciduria". We've been going through testing for 4 months now, and still no answers. It seems like results take too long to get back to us and I know time is of the essence. I just came across your web site and would love some advice as to what we can do to become more proactive for our daughters sake.
Thanks so much! View Answer |
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2009-10-24 |
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hello ,
my niece is affected with this disease(glactokinase).when she is 3 months old we came to know that she is affected with this .At that time she has developed eye cataract for which she has been operated.now she is 15months old .i want to know wat diet should we kept her?can she have sugar products?i also want to know whether she will be affected further or not ?if yes then how?pls send reply as soon as posssible View Answer |
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2009-10-24 |
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I have had three children diagnosed with molybdenum cofactor deficiency(passed away at 4 months, 5 months and 4 years)and 0ne normal, healthy child. My husband and I have chose to get a sperm donor to hopefully avoid this terrible deficiency. What is the chance my child will have moco deficiency using a sperm donor not related to me or my husband? We do not know the mutation so we were wondering if there is any prenatal testing that can be done? I was wondering if the sulfite levels can be detected in amniotic fluid or not?
thank you so much!!! View Answer |
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2009-10-23 |
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I was told that my daughter has a form of MPS. They have said that all the types which have testing available came back negative. Are there there types which cannot be tested for? Thankyou. View Answer |
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2009-10-19 |
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I had two brothers that died from Hunter Syndrome. I have four other brothers and we know that they are all carriers fo this defective gene. How would I find out if I am a carrier of this disease and where would I need to go. I have two healthy sons but they are now at the age where they will start having their own children and I would like to know if there is a chance that I passed this defective gene to them. View Answer |
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2009-10-16 |
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Do people with congenital Iso Sucrose Maltose Deficiency have a compromised immune system? View Answer |
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2009-10-15 |
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Wij zijn sinds bijna 4 maanden grootouders van een kleinzoon met3mcc. Hij is vrolijk, lacht, is stevig en behendig. Onze dochter is echter constant sceptisch! Vlak na de geboorte was zijn glucose niet goed. Hij werd hier iedere dag voor geprikt! Was dit reeds een aanwijzing voor zijn 3mcc? Hoe komen we erachter wat ons manneke straks wel en niet mag eten? Hoe ernstig zijn situatie is? Er zijn zoveel tegenstrijdige berichten. Mede omdat 3mcc vrij zeldzaam is. Soms weigert hij zijn flesje, hij slaat met zijn hoofdje van rechts naar links! soms geeft hij zijn voeding terug. Wat is dan een reeele
reactie? Wij als grootouders zien in hem een normale baby, maar is dat terecht? Wij willen zoveel mogelijk info vergaren maar is erg moeilijk omdat over 3mcc nog zo weinig info is.Graag uw reactie! View Answer |
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2009-10-14 |
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Gentilissimo dottore,
le scrivo dall'Italia vorrei sapere se possibile dove curano il deficit dell'MTHFR C677T, l'omocistinuria.
Quali test bisogna fare e quali farmaci prendere.
Se c'? la possibilit? di un trapianto genico e dove.
Grazie. Dear doctor, I write from Italy where I want to know if you can cure the deficit dell'MTHFR C677T, the homocystinuria. What will need to do and what medicines to take. If there is the possibility of gene transplantation and where. Thank you.
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2009-10-13 |
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On 1994 i was admitted to a clinic of Athens with an image of acute rhabdomyolysis,after long time ago and after 2 biopsys my diagnosis was: Rhabdomyolysis on the grounds of metabolic myopathy (carnitine palmitoyl tranferase II deficiency). I want to ask if after all these years exist any cure about that..life is not easy if you live with it.. sorry for my english and thank you for your time, looking forward for your answer..
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2009-10-08 |
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my 3 children all have stomach pains and diarrhea if they consume sugar, the girls are much more severe so we keep them off sucrase and most disaccharides. They are ok with honey ,glucose and fructose. My question is what is the relationship between the csid condition and the apparent lactase deficiency the appeared to have as babies? They could not tolerate breastmilk at all and showed all the same signs as csids but with severe gastric reflux espacially in the girls.However they can tolerate cows milk with lactose in it. Is it a strange combination of csids and moderate lactase deficiency? It was extremely difficult to manage when they were babies and I would like to know if I had another child with the same condition how I could change things so that i could breastfeed. Thanks
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2009-10-07 |
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My husband and I lost a child to tyrosinemia. We have a surviving child who is 20 and not affected. Is there a test that can be done to determine if she is a carrier?
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2009-10-04 |
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Hi I have Ornithine Transcarbamylase Deficiency and am really into weight lifting, I was wandering if this deficiency holds me back from gaining muscle gains and getting bigger, I seem to be struggling with gaining size and getting a muscular physique that seems like everyone else can get but me. So if you could help me out to see if this is what is keeping me from gaining muscle and if so is there supplements that i can take to help get my gains. View Answer |
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2009-09-29 |
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My son is 6 months old and was just diagnoses as having Glutaric Acid Type 2 Deficiency, the doctors tested him for it when he had 3 short seizures once each day for three days. They say he doesnt present like a child who normally has the disease but they re-tested him twice and got the same results. After reading up on the disease on the internet Im incredibly worried about how long he might have to live..is it possible he has it really mildly and will live a long and normal life? Or do all infants with this disease die? View Answer |
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2009-09-26 |
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Hello,
My 2 year-old son has been diagnosed with isovaleric acidemia and we've been giving him carnitine and low-protein food for 2 months now. He has a developmental delay, which was the reason as to how the disorder was found, with no speech and no walk yet. The endocrinologist says he will "catch up" and that IVA is the reason to his delay, but the neurologist suspects he's got Angelman's syndrome, a disorder which I've found out deals with the same chromosome; 15 and are very close to each other (IVA 15q14 and AS 15q11-13). Is there really a chance that these two disorders have nothing to do with each other and if not; is there a possibility that my son suffers only from IVA and that the symptoms resemble these of Angelman due to the nearness in location within the same chromosome? View Answer |
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2009-09-25 |
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I have a 14 yo girl with beta ketothiolase deficiency, now with her second episode of subacute weakness (though inconsistent exam with giveway component and preserved reflexes and normal NCS) and symptoms of parathesias and numbness in length-dependent fashion, both occuring about 1 week after a URI. Many aspects of exam are functional: is there a connection between this mitochondrial deficit and episodic subacute onset neuropathies? View Answer |
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2009-09-24 |
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Hi,
My son has been diagnosed with Carnitine Deficiency, can you please tell me if this is the same as CPTII. And is this something a pediatrician can treat or should he see a specialist?
I also have a daughter with Cardiomyopathy, can CPTII cause this?
View Answer |
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2009-09-23 |
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Hi- I'm 49 and have severe PKU. I was on diet till I was 12 then taken off. 27 years later I found out I should have been on it all along. Despite my efforts and methods my diet is very poorly controlled. My question is do you know what is the life expectancy of a PKU patient with poor diet control averages is double the amount of PHE allowance of 500 mg. a day. Thanks View Answer |
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2009-09-19 |
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I have a 4 month old son with adult sweaty odor under his arms. He is healthy with no known developmental delays. His newborn screenings were normal. He?s in the 95th percentile for weight and has reflux, but is not medicated for it. My pediatrician said in 30 years he has only seen 2 other babies with this odor and they were both very sick. He referred us to a genetic specialist who said he didn't see a need for testing since he appears healthy. Basically, he said I need to get over it since it isn't offensive to others because you can only smell it when you put your nose close to his bare armpit.
I've done a lot of reading online but haven't had much luck. I found one message board where about 5 other mothers had the same problem. 3 had written that their infant was large for age and on medication for reflux. The other 2 hadn't commented on those details. I can?t believe it's normal for my 4 month old to have body odor as soon as 6 hours after a bath. Do you have any suggestions? View Answer |
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2009-09-18 |
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My Goddaughter has had a fishy smell when she was younger her and her siblings now that she is 22 with a son she breastfed the baby and at one and a half he started having tremors and stopped walking he has had 3 MRI's they say its a virus . Whats wrong with him and he is on no meds it's been 11 months he is not walking anymore i read about Trimethylaminuria can that be affecting him. View Answer |
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2009-09-09 |
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Respected sir, my brother has adult-on set of type 1 citrullinemia at the age of 28 years.Is its care possible ? where is its treatment available? View Answer |
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2009-09-02 |
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I am the mother of a child who is 22 years old and she just had a TIA (Transient ischemic attack) attack this past weekend. Some of her tests so far have come up normal, but I was wondering if her symptoms since childhood could all be connected to Acidemia, isovaleric. She has had since she was an infant, unbearable breath that actually has gotten worse as she got older, unbearable smelly feet, her heart will race out of no where even when at rest or after she eats, lethargy, had mono as teenager, in last few years an on and off chest cough/sinus infections continually treated with antibiotics. Also she is very thin. Do you believe with especially this last issue it would be worth checking for the Acidemia,isovaleric? Thanking you in advance for any suggestions or help you can give. View Answer |
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2009-09-01 |
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I have just been dignosed with crohn's enteritis. Want to know diet plan. Taking asacol 2.4 mg/day. having itching all over body but rest all body functions are normal. surgery was carried out on 13th July 2009 to remove block in intestine. View Answer |
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2009-09-01 |
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My question is on Maple Syrup Disease. I had an amniocentesis and there were no chromosome abnormalities noted. No one in my family is afflicted. However, my two-month-old urinated on his head on accident and it smelled like maple syrup. His head smelled like maple syrup until I gave him a bath in the morning. Should I be worried? It doesn't sound as though I should, but I can't get the smell out of my mind. He takes his formula well and does not have vomiting. He does burp quiet often. He was lethargic and a poor feeder with a full septic work-up upon birth and admitted to the NICU but everything was negative. Since then, he does eat well and is alert and meeting his milestones. View Answer |
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2009-08-31 |
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hi i am the sister of the late j.p. who had otc deficiency. At the time of his death i was tested for otc and had a normal allopurinol meaning i dont and wont show any symptoms of the deficiency.At the time there was not much information for us and now i am older and trying to start a family of my own throu i.v.f i would like to know if you can tell me if there is any possibility of me passing the condition on tomy unborn children View Answer |
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2009-08-18 |
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My newborn granddaughter was just diagnosed with classic pku. Her formula has been changed and she is seeing a specialist for this condition. This was diagnosed and diet addressed within 2 weeks of birth.
If her diet is followed exactly as advised, is she still at a high risk of retardation?
View Answer |
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2009-08-16 |
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Re: 5-alpha reductase deficiency. Is it uncommon or impossible for a human female who has the genetic disorder, 5-alpha reductase deficiency , to menstruate at the time of reaching puberty? View Answer |
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2009-08-14 |
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I am a pediatric surgeon and liver transplantation surgeon. I have performed liver transplantations for 4 kids with methylmalonic acidemia (MMA) and 1 with OTCD and 1 with homozygous familial hypercholesterolemia (HFH). The results are excellent for OTCD and HFH but not for MMA. I am very interested in the study for stem cell transplantation for MMA patients. My question is where to find or to create a mice or rat with MMA-like manifestations. In my hospital, we have already an animal model with fulminant hepatic failure with satisfactory results with stem cell therapy. So I really hope to know where to find or how to create a mice with MMA-like manifestations. Many thanks. View Answer |
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2009-08-10 |
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I was diagnosed to have the 3 mcc when my daughter was born. I am healthy, I do not experience any health issues, knock on wood. However, when I asked my primary health care physicain, he was unable to help me. Is there anything I should be doing? Should I be taking anything as a supplement? I have noticed, that I crave for iron related food groups, I do not change my weight, I am about 5'2" tall and weight about 110 lbs. What makes me concerened is the fact that I eat an abnormal amount of meat, and I am hungry until I eat a lot of meat. I get nauseated just thinking about sweets, other than chocolate. Is that normal? View Answer |
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2009-08-02 |
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Our Grandson has tested for 3MCC his parents both carry the gene does that mean that my husband and I are also carriers and did we pass it on to our son? View Answer |
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2009-07-20 |
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What is the prognosis of someone with Hypermethioninemia? View Answer |
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2009-07-20 |
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PLEASE MENTION THE TREATMENT OF A NEW BORN BABY BOY SUFFERING FROM MMA ABOUT ONE MONTH OLD View Answer |
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2009-07-17 |
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My internationally adopted daughter was diagnosed with hyperprolenemia type II after our state's newborn screening results showed highly elevated proline. When our daughter was screened she was acutely malnourished and had latent tuburculosis.
Her physician prescribed vitamin B6 (Pryidoxine) which she has taken (orally) for six months (along with her TB medicine) and our latest proline level is now down to about two times normal. Her doctor has now upped her B6 to try to continue to bring down the proline level.
Is this how B6 works? will the B6 bring down the proline level, or is it more likely that her highly elevated original proline level was a temporary result of her malnutrition and she really doesn't have type II?
Thank you for any information. View Answer |
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2009-07-16 |
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Two of my three children have trimethylaminurea. My husband and I are not aware of anyone in either family with this condition, though interestingly my husband has always avoided foods high in choline. I understand it is likely we are both carriers - is this true? Also, I am curious to know whether the condition is more prevalent in some ethnic groups than others. View Answer |
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2009-07-09 |
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I am a 44 year old female that has just been taken off of Depakote(for a seizure disorder) because of sleepiness and because of an increase in my ammonia levels to 180 mg/l. I have also had spells in the past when under extreme stress, I have felt extremely strange, and have had seizure-like feelings, as well as feeling stoned(I don't do drugs).
By having responded this way to Depakote, and because of past spells that I have had, should I consult with my MD about a uric acid cycle deficiency, or is this something else?
Thanks in advance. View Answer |
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2009-07-06 |
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WHAT ARE THE CHANCES OF HAVING TWO CHILDREN IN THE SAME FAMILY BORN WITH CONGENITAL SUCRASE ISOMALTASE DEFIECEINCY...MY IS BORN DAUGHTER HAS BEEN DIAGNOSED...AND WE WONDER IF WE HAVE ANOTHER CHILD WILL THEY DEFINATELY HAVE IT TO? THANK YOU.. View Answer |
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2009-07-06 |
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I have a liver disease called galactocemia, and I have a lot of questionsthat is of concern because I am a little bit confused at how my body works. My first question is due to my server liver disease can I have a baby because I always have problems with my ovaries?
If so how can I obtain more energy in my body if I cannot have dairy products and certain things that contain galactose in it?
There are many types of sugar out in the world some gives me energy and some makes me tired how do I know which ones are right for me? View Answer |
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2009-07-04 |
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hello.
i am nutritionist . i work in a hospital that is allocated just for children.There are many metabolic disorder in this hospital.resently i had a patient .a girl in 6 years old with 4 pathobiology answer sheet .
first time about 8 amino acid were high.
second time valin .lucin&isolucine of her blood were high
third time just lactate&amonia were high.
forth time just lactate &amonia were high.
now my question is,what would her kinds of diet be.
you know in iran there is a little source of foods with low protein base , threre is but the variety of them are limit .
the things that is important for me is the name of this metabolic disorder i think it isnt MSUD because except valin,lucin&isolusin some of the other amino acid were high ,am i right?
I am thankfull for your attention before . View Answer |
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2009-06-20 |
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Why is my body emitting horrible smells. Sometimes it's fishy but the majority of the time it's a fecal smell. I have been to many doctors and they think a bar of dial soap and metamusil is the answer. I've been suffering with this for sixteen years and I feel like the doctors did'nt take me serious when I tried to explain my condiction. View Answer |
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2009-06-19 |
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I am a 32 yr old woman with galactosmia. I have had 3 Children who have come back testing normal when they where born. I would like to have another child and would love to breatfeed as I didn't get the chance to do it with my other 3 children as I was told it would be dangerous. Is this ture? Is a women with classic galactosmia not alowed to breatfeed? If not, why not.
Please help
Thanks View Answer |
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2009-06-17 |
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I have been diagnosed with partial biotinidase deficiency. My son also has partial biotinidase deficiency, and his son has profound biotinidase deficiency found during newborn screening. Obviously I have passed this down to my family. With partial biotinidase deficiency do I still only have one abnormal gene and one normal gene or would I have to have 2 abnormal genes? at my grandmotherly age, I have some sympptoms that may be related to biotin deficiency. Should I take biotin and if so in what form.... will over the counter biotin be sufficient? View Answer |
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2009-06-17 |
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My 3 yr old son was diagnosed with congenital hypothyrodism. His first TSH reading was >100. He has been on medication since he was 6 days old. We also did a thyroid scan at that time and showed signs of "dyshormonogenesis". His TSH levels are under control now as he is on medication. His dr says that at five he will have take an IQ test/another scan. My husband has three paternal uncles with the same hypothyrodism but he himself does not show any signs of it. We would like to have another child but are worried about the second one also being born with this thyroid problem. What are the chances of this happening. We have read that with inherited congenital hypothyrodism babies are sometimes born with no thyroid gland at all and face difficulties later in life, even while on medication. are there any tests that my husband can undergo to check if he is a carrier ? I have had my thyroid tested and there is no problem but is there any test I should undergo as well? View Answer |
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2009-06-16 |
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is there any natural supplement for tetrahydrobiopterin deficiency View Answer |
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2009-06-13 |
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I'd like to know how the genetic disorder OTC Deficiency
affects a person's mental health. View Answer |
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2009-06-09 |
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My son was diagnosed with a tyrosine hydroxylase deficiency. He has been treated with carbidopa/levadopa for about 4 years. His symptoms improved dramatically with treatment. I've read a lot about his condition... but none of the literature discusses prognosis or longevity. Is this a potentially life-shortening disease? View Answer |
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2009-05-29 |
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My baby was diagnosed with a rare disorder known as scads. She was a preemie and has other illnesses along with this. But we mostly fear this disease because we don't understand it. It is so rare that the doctors do not even know what to tell us about it. I just wanted to know if a person who has it has a normal life expectancy and can live a normal life. View Answer |
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2009-05-20 |
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I committed to a college to play basketball and recently found out that i have CPT 2. I'm 18 years old. Am I going to be able to play at the college level and work out hard with this disease? View Answer |
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2009-05-19 |
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I keep seeing online that people with 5-alpha reductase deficiency are male. My wife was diagnosed with this condition at birth.She has a fully developed vagina, with the exception of an enlarged clitoris.We would appreciate any advice or information on this subject.Does this occur in females?
View Answer |
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2009-05-17 |
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Hello, my daughter was born on January 23, 2009 and 12 days later was diagnosed with IVA, after further testing, she was later diagnosed with 2-MBCD (and not IVA). Both parents have been tested and not found to be a carrier!!! (further testing to be done)
Do you know of any other child that has this condition and is living a normal life that i could contact?
I was told that none other in Canada has this disorder.
Thanks View Answer |
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2009-05-13 |
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I AM A 42 YR OLD WOMAN AND HAVE BEEN SUFFERING FROM TMAU ALL MY LIFE I HAVE FOUND IT VERY DIFFICULT TO KEEP A JOB IS THERE ANY WAY I CAN GET DISABILTY FOR MY CONDITION? View Answer |
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2009-05-08 |
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I have read that children diagnosed with MCADD can lead normal, healthy lives if the MCADD is diagnosed and treated early and continuously throughout the lifespan. However, I have also heard MCADD described as a "degenerative" disease implying that it worsens over time. Can you please clarify or elaborate on the long-term treatment and prognosis of MCADD? View Answer |
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2009-05-07 |
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My 26 mo. old son has elevated B12 of 1675. Could it be a sign of a metabolic disorder? He is in the 95% percentile for height/weight, so definitely thriving in growth respect. His allergist (food allergies, asthma, eczema) mentioned that a few other patients in her practice have elevated B12 as well with similar behavioral and sensory issues as my son has (high energy, sensory seeking). He also has chronic soft stools, although we recently have seen improvement since we stopped giving him SoyMilk w/ added DHA & Omega 3. Could there be a link between B12 & behavior/sensory? His newborn screen was normal and he is adopted so I don't have much medical history. He is of Irish decent, but was adopted domestically. He had no prenatal care. He does not take a vitamin supplement, although had been on a probiotic prior to the lab workup. Currently doing a gluten-free diet then will repeat labs in 60 days. Wondering if he has mild symptoms of a inborn error of metabolism. Next step? View Answer |
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2009-05-07 |
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Hi,
Can an normal heterozygote who doesn't show any signs or symptoms of PKU be tested to find out if they are a carrier of the recessive gene?
Will it show up in a blood test or will their urine
have higher levels of phenylketones?
View Answer |
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2009-05-03 |
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I have full custody of child that may have Congenital hypothyroidism, my question is can drug use during pregnancy be the cause of this condition? View Answer |
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2009-04-30 |
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My daughter has a 11 year son, a 21/2 year old daughter and sadly one of my grandson's passed away after 'having a virus attack his heart'. (He would have been 5 soon). No conclusive diagnosis was made but he was treated with Lorenzo oil as there was a suspicion it could have been a metabolic condition.
My daughter now has a new baby boy - 1 week old who has been conclusively diagnosed with VLCAD. He is already on medication and being managed by a metabolic team. Also he has to take special sugary formulae in addition to his mother's breast milk.
Is he going to be able to live a norma life if he is managed carefully. View Answer |
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2009-04-29 |
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I have a 1 year old who smells like fish when he eats fish. Is there any reason to test him for trimethylaminuria. Is that part of the newborn screening?
Is there any reason to pursue this at all?
Thanks. View Answer |
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2009-04-18 |
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We had 3 new born screens that came back showing low enzyme activity in our son. We went to UVA, had more bloodwork done, and were told he is a level 11 for enzyme activiy on a scale of 1 - 18. This is apparently a borderline carrier/Duarte variant level? What exactly dones this mean? When asked if we should breastfeed, we were told that we should do a "challenge test in a few weeks" and that there "probably" wouldn't be any damage done internally in that time. The word probably concerns us! Any information you might be able to give us?
Many, many thanks! View Answer |
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2009-04-17 |
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Hi. I have just located information on this MSUD (Maple Syrup Urine Disorder) online and have a question. Does this only show up in infants? I am 29 years old and have, over the last few years, had episodes of extreme fatigue, irritability, just general malaise, and it is always accompanied by my urine smelling like maple syrup. It usually last a couple of days to a couple of weeks, and usually happens when I am extremely stressed. I have seen my primary care physician about it a few times and they can never find anything wrong with me and they just tell me to take it easy and get some rest. Should I see my doctor for an evaluation? Do you know of other conditions that could cause the urine that smells like maple syrup? At first, I kind of thought I was crazy to think it smelled like maple syrup, but then read this, and maybe I'm not so crazy after all. View Answer |
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2009-04-16 |
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I want to know what dietary guidelines I should be on with my Ornithine Transcarbamylase dificiency. Should I be eating more of certain foods and avoiding specific foods? Please give me some healthy food choices for my condition. View Answer |
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2009-04-13 |
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Hello! I am a mother of a 13 year old boy, who seems to have major odor problems. he will shower twice a day, use deoderant and body sprays to hide the oder. Most of the time he will say he doesn't smell when his odor is very strong. At night he will shower, go to bed and close his door. The next morning, the smell will knock you down. A friend at our church told us about trimethylaminuria. I was wondering if this could be it. His doctor is aware of the problem but just says he needs to wash more. My son has had problems with depression due to people talking about him "stinking" and has been told he had encaprises 2 years before he hit puberty.But is no longer on medications. His diet does has high doses of eggs and corn (they are is favorite).
If you could help I would greatly appreciate it. I just don't know if I should pursue this further with his doctor or not. I feel like the problem is just getting pushed off and ignored. Thanks!! View Answer |
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2009-04-12 |
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My grandson was born about 4 weeks ago and was perfectly healthy, with only a high level of Jaundice. Went to the follow up dr visit and were told that he could possibly have SCADDs, his blood level came back 1.88 and they did a retest and it came back 4, they also took urine for more testing, it came back with a 415 organic acid level ( not sure what all these #'s mean), saying it should be no more than 18, still no answers if he has SCADDs or something else going on, further genetic testing is to be performed to see if he does infact have SCADDs. Our family is very upset because we do not know much about this and the dr's seem to not know anymore than we do. Can you give us some sort of insite on all of this. View Answer |
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2009-04-11 |
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Hi again I asked a qustion about my 4 yr old grandson who was thought to have this(MMA in infancy but then was discharged from metabolic clinic Now as stated he has had several unexplained fevers, he has leg pain and he is tired. Is it possible that he did have a mild case of methylmalonic acidemia and now it is acting up again. ?can one have a mild form of this condition? he is a very bright boy but has some fine motor problems, His only symptom has been tachypnea his whole life but his pediatricians never paid any attention to thisI do not think he is regressing in his skills. if he does have a mild case, can he be helped by treatment, like a special diet and ddoes he did to have a test for VIT B12 He just had a repeat ammonia level but we do not know the results. Pleas inform me if this can be a mild case, the treatment and prognosis worried GM TY so much View Answer |
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2009-04-09 |
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My grandson was dianogised with carnitine deficiency shortly after he was born. He'll be 4 in June and has been taking levo-carnitine since then(his oldest sister was also found to have the same problem). In Dec. '07, his dog knocked him down and broke his leg. The day before Thanksgiving '08 he broke his arm playing in the house. Yesterday, he broke the same arm plopping down on the ground. Could this condition or medicine cause his bones to be easier to break? Is there any test he could have to see why his bones seem fragile? Thank you. View Answer |
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2009-04-05 |
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Where can I find help for my condition, Trimethylaminuria (TMAU), in my area? View Answer |
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2009-04-02 |
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My Nephew (brother's side) was recently diagnosed with Congenital disorders of glycosylation (CDG) Type 1a. We are planning a family of our own and would like to be tested first. Geneticist have told us that they will have to test the parents first to pin point the mutation but they do not want to be tested in the near future for their sons health is their main concern (witch is understandable) Is there any way of testing me and my husband to be possible carriers? Could you give us a list of names of the different mutations? View Answer |
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2009-03-31 |
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My grandsons, 3out of 4 siblings have been diagnosed with a carnitine deficiency. Well, blood tests have showed their levels to be within the range-occasionaly. One time the physician says yes and the next test maybe normal levels. One physician says they do not have CD the other says they do. The oldest has CP, muscle weakness, has had pain in his legs, he had high levels of lactic acid that were never explained and has been to ER for stomach pains that were attributed to constipation, he had reflux as a young baby, also he has behavior problems and has just been told he has an enlarged liver. His siblings seem not to have any symptoms. This time in blood tests he was normal and his siblings were low. What is going on? The oldest also had muscle biopsy and skin biopsy which they said was negative for CD. Help! View Answer |
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2009-03-31 |
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Grandaughter, 5 yrs old. diagnosed with surcrose isomaltase deficiency at birth...we control it by limiting sugar intake...cannot be potty trained(except for urine), because she has frequent bowel movements and she says she doesn't know when it is coming...She has had motility test and sphincter muscle test..they were ok...Biopsy shows very low enzymes...We are at a loss what to do next..She is a very bright , well adjust child, and entering kindergarten in the fall...We would welcome any suggestion as to what direction to pursue this problem..She has been to the best specialists in Boston and even to New York when she was an infant..thanks for any help you can provide.. View Answer |
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2009-03-26 |
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Dear Geneticist,
I'm a student at Walt Whitman High School, and am doing a project for my Biology class on Maple Syrup Urine Disease (MSUD). I was wondering if you could help me, see, i have a project on the specified disorder but there's a part that i'm stuck on. I can't find any information about the doctor who originally discovered the disease, when it was discovered, and who the first case was (if it was recorded). So, if you could get back to me ASAP it would be very helpful.
Thank you View Answer |
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2009-03-24 |
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I am currently taking fertility medications but dont know if there are certain drugs in fertility that my be harmful to my health? Also im underweight, can me being G6PD have something to do with it? And if there is, is there any treatment that can be taken to get my weight back to normal? View Answer |
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2009-03-23 |
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My daughter has SCAD. No one else in my family has been tested but I have health issues and was wondering if I should get tested or not. Currently my Drs. including a neurologist are doing testing and doing research to find out what is wrong with me. I have had bacterial meningitis and viral meningitis. 2 weeks ago they found bacteria in my lumbar puncture and also found inflamation of my central nervous system. I seem to be catching any and every cold or illness due to my imune system. I do not believe all of medical issues are due to me having SCAD but I am wondering if maybe I have it and this has an additional effect on my health. Please advise. Thank you! View Answer |
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2009-03-23 |
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What is the life expectancy of a child if not treated for maple syrup urine disease? View Answer |
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2009-03-22 |
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I have been having syntoms of muscle weekness, blurry vision, cramps in arms and legs, frecuent headaches (2-3/ month with a duration of 5-10 days), numbness, tireness, depression, lost of balance, a feeling of a blood flow running on the left side of my head when I have a headache, my blood pressure is increasing (normal 90/70; now 125/85).
Neurologist found two lessions of white matter, one in my brain and one in the cerebellum. Sometimes I can not feel my legs, arms nor my hips or by back. Its a sensation of been under an anestetia. Syntoms have been presentent slowly for 22 years; every time getting worst. In case this might be relevant, I also have two kids both with primary carnitine defficiency.
NO DOCTOR CAN FIND WHAT IS GOING ON WITH ME.
CAN YOU HELP ME, PLEASE? View Answer |
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2009-03-20 |
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My son had Carnetine deficiency as a child. He was treated with Carnetine with good results. He is now 20 years old and in college. He runs track, jumps hurdles. He has a very long recovery period following a race, which is generally 200-400 meters, fast pace.He is very fatigued and sweats profusely. Could there be any danger as a result of this type of exertion? View Answer |
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2009-03-20 |
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Our son has 8P duplication inversion syndrome. At birth he was low tone, lethargic, poor feeding and had a respiratory arrest. He has agenesis of corpus callosum. He is now 8 years old, mentally retarded and developmentally delayed in all areas. He has seizure disorder and is always sleepy as if drugged. He is on valproic acid.
We just did a huge set of urine tests on him and found many abnormalities. He has very high glycine in his urine. He sounds like he has this condition glycine encephalopathy in symptoms. Can you give me some guidance? Please?
Thank you View Answer |
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2009-03-18 |
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I am trying to find more copies of a book published by EUDP.
It is titled
pkufoodlist keeping trakc of the foods you eat
Rani H. Singh, PHD,RD
Erica Lesperance,RD
Karen Crawfore, BS
Emory University Department of Pediatrics,
Division of Medical Genetics.
Please let me know where I can get copies for my kids. View Answer |
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2009-03-17 |
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My 16 month old daughter has had problems with foul smelling diarrhea, night waking, and failure to thrive. She was diagnosed with a milk allergy at 9 months, but has continued to have problems. We are currently seeing a pediatric GI doctor. She has been tested for numerous things including CF. Most recently she had a endoscopy and colonoscopy. The biopsies taken revealed low levels across the board of all sugar enzymes (lactase, sucrase, maltase, palatinase, etc.). The GI doctor seems stumped with these results. He says it's rare to have low levels of just one of these enzymes so he doesn't know what to make of it. Is there a genetic disorder that would cause low levels of all of these enzymes? Thank you. View Answer |
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2009-03-16 |
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My nephew is a carrier for LCHAD. His older brother died at age 7 months with this disorder. My question is, with him being a carrier is it possible that he can have learning disorders. He is in the 1st grade and is struggling learning to read and he has speech problems. This is such a rare disease and there is little information out there for us to help. View Answer |
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2009-03-08 |
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My child is Diagnosed for "pyruvate carboxylase deficiency". He is 2 month old. What is the probability that he will be cured. Symptoms include difficulty in breathing sometimes (particularly when Gardinal is given for seizures). Recent values of Lactate Test : 14.5 mmol/L, Ammonia 53 u(mew)g/dl and Gulcose 25mg/dl. Prescription by the Doctor is Tab Hepamerz Syrup (L-Ornithine, L-Aspartate) or Analiv 500 (not for infants), Tab Chewee / Vitamin C, Please help me.
View Answer |
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2009-03-02 |
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My daughter has SCAD deficiency and is 16 years old.
Lately eating the same diet she has been on for years, she is putting on weight. She walks and participates in PE at school. Are there any thyroid conditions which may develop later in life related to SCAD which may contribute to this weight gain?
Thank you. View Answer |
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2009-03-01 |
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Hello,
My son 13 years old Born with Glucose Galactose Mal absorption. I would like to get a second opinion , I am in New Jersey area , can you recomend any doctor we can consult in NY Metro area.
My son is under weight also week , we would like to improve his physique,
May be we want to make sure with Geneticist ? please advise View Answer |
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2009-02-25 |
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I am the mother of 2 great kids. My son is being reffered to emory genetics to check for Glutaric Acedmia. i do not understand anything about this, what is it and what can I do as parent to control it. He is seven, and was injured playing basketball back in sept., and has been a totally different child since. He has ran away from home, had seziure like episodes, spasms or jerking of some sort, and will be fine straight a student in and when he has the attacks so to speak will fail every test he takes that week. It is like he just melts doown for a few days and then he is ok again. I am so confused and looking for any help I can get.
thanks View Answer |
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2009-02-21 |
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Hi, my daughter is currently being treated as having glucose/galactose intolerance, she is mow now 4 months old. Is it possible for my wife and I to have genetic testing to help with a proper diagnosis of this disorder.
View Answer |
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2009-02-20 |
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My son was born with Isovaleric Acidemia, he is now 4 years old and doing well. He has Carnatine and glycine 3 times a day since he was 2 weeks old, and is on a protein restricted diet of 32g per day and no less than 28 g per day. My question is with his high carbohydrate diet with a high intake of calories, is he at risk of developing Diabities or other problems in the future? Also do you know what they feel of pain if any, if their protein intake for the day is too much..eg. headaches, stomache aches or muscell cramps? View Answer |
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2009-02-19 |
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Hi, I have a question about trimethylaminauria. is it possible for the individual to be nose-deaf to the fish smell immediately or does it take a while before that happens? View Answer |
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2009-02-17 |
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My 9 month old has Duarte Galactosemia.We are on a lactose restricted diet untilshe is 1, then we willperform a "milk challenge". She is starting to eat solids, and I can't find any info on what fruits and vegetables are safe for her. I found some charts that show levels of galactose in "mg/100g". What would be considered a safe level? so far i found one site for parents that has allowed peaches,pears, sweet potatoes,and green beans.Are there any other choices for me? View Answer |
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2009-02-17 |
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Our grand daughter is affected with Citrullinemia of Type 1. She is 15 month by now and resides in Switzerland.
I am looking for other parents having children's with this condition to share experiences.
Preference Switzerland first, but world as next.
View Answer |
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2009-02-16 |
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My child was tested for galactosemia. It came back he has Duarte. I have read online that they are different levels of duarte depending on the severity. I am not sure if this is true or not. Also, my son has feeding issues is this resulting from Duarte? He seems like he is starving and then goes from full back to starving while taking a bottle. It takes an hr to get him to finish a bottle of Nutramigen. He throws up alot also. He has acid reflux too but he is on Prevacid for that and we add rice to his bottle but not much. We have special bottles and special nipples for the bottles...we have tried it all. Is this related to Duarte. He gulps air alot, seems like he is choking during feeding, and burps alot even after feeding. We burp him every oz while feeding but he seems to be burping in between. We just aren't sure what to expect with Duarte (what symptoms are normal and are related). Please let us know. View Answer |
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2009-02-14 |
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Is there a routine test performed at birth to detect maple syrup urine disease? My grandson is 6 months old and his urine smells like maple syrup. He does spit up a lot however is growing very well. His development is a bit behind (slow rolling over) but is a first child and both parents jump when he has a discomfort. The parents are concerned and want to know how to find out if he has this disease. I am a nurse and of course hear the questions and concerns. They are in Lexington KY. There is no known family history of any genetic problems out of six children and 10 grandchildren.
Thanks in advance for your input. View Answer |
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2009-02-03 |
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HI, WHERE CAN I GET DIET INFO FOR CHILD WITH GLUCOSE GALACTOSE MALABSORPTION? THANKS MILAN View Answer |
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2009-02-01 |
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My son has not been gaining weight (he is very healthy otherwise and is very active) and his doctor ordered a battery of tests and it came back that he has an elevated pyruvic acid, suberic acid, sabacic acid, lactate, and ethylmalonic acid. She doesn't know "what it means" and had to contact a metabolic specialist. Wehhave been waiting for over a week and still don't have any answers. His CBC and chemistry were completely normal. I was just wondering what the significance of these tests were and if you could point us in the right direction. View Answer |
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2009-01-31 |
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My 7 week old grandson had bad breath that smelled like sweaty feet. I did some online research and learned he could have IVA or MCAD. I left a message for the PA taking care of him. She called my daughter (mother of the child) and told her that unless his breath smelled all the time, that it was probably just something the mother ate (she's breastfeeding). Should I insist that he be tested for one of these disorders? View Answer |
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2009-01-27 |
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On the internet there are reports that TMAU sufferers not only have the bodyodor of fish. There are several reports claiming that depending on the TMAU level in ones body determines the odor, which includes rotten garbage, fecal odor, hot tar, smoke, etc. I have an extreme odor of sulfuric/rotten eggs and was told to get tested for TMAU. Before I get tested have you heard of any reports of this being a TMAU produced odor? Thanks. View Answer |
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2009-01-26 |
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My daughter (now 2) was diagnosed with G6PD, but neither my husband nor I, are carriers or have this condition. We tested every member of the family, and nobody come out as a carrier. Could her testing be wrong ( we tested her twice) or the is another logical explication for her condition? View Answer |
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2009-01-25 |
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my 13 and 10 month year old son has had abdominal pain, constipation, episodes of severe hours of vomitting, and diarrhea. i have brought him to a ped gi 6 months ago. he has had blood, urine, stool, abdominal xray,colonoscopy and endoscopy. the dr had told me he is lactate enzyme was 0. i received my sons medical records yesterday. his sucrase was 23.4, maltase was 72.0 and his palatinase was 3.6. i felt that the levels on maltase and palatinase were at least 25% less than the normal range in the report. we stay away from dairy and these symptoms are still there, and worse more recently. also, my son is only 75 pounds, and about 5 feet 1 inch. he is not thriving. any possible answers? View Answer |
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2009-01-25 |
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What causes heart problems and issues with kidney and prostate stones in people with alkaptonuria? If it is the build up of homogentisic acid, how does this affect the heart and kidney/prostate stones?
I need the name and profession of the person responding to this, please.
If I am able to use this information in my essay and I recieve it in time, I'd be happy to make a dontation to this site. Please contact me by email. View Answer |
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2009-01-17 |
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I am interested in what I can feed my grandson other than potatoes and rice. I would also like to know what he can drink besides gluetrex mixed with water. He's two now and off the bottle. What can he drink that won't hurt him other than the gluetrex? Please help.
Thank you. View Answer |
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2009-01-16 |
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hi my nephew was diagnosed with acyl carnitine can you please help me what it actually is or how it is passed because my brother and wife have 2 other kids but they dont have this disorder can you help me please View Answer |
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2009-01-15 |
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Hi , We have an 9mth old baby girl with high Glycine levels and suspected mild form of NKH. She has had uncontrolled seisures since she was 9 weeks old. NKH is rare in itself , however how many other children have you heard of with this mild form of NKH? View Answer |
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2009-01-14 |
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I am an ER nurse and a mother of two boys, 5yrs & 1yr. Three weeks ago, I noticed my 1yr old's urine smelled of maple syrup (after starting him on cow's milk); it was not a new smell because my 5yr old's has smelled like that off and on his whole life. My 5yr old has developmental delays. Our pediatrician ordered amino acid and organic acid analysis on both (to rule out a variant of MSUD); he ordered Fragile X and Chromosome Analysis on my 5yr old. Fragile X and Chromosome came back normal, but he hasn't told us the results on the amino/organic acids. I requested the results of the acid tests, but instead, he said he's referring us to a geneticist. My question is, would there be any reason to refer us to a geneticist if everything came back normal? View Answer |
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2009-01-14 |
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The geneticist at my hospital thinks that my child has VLCADD, but couldn't prove it with DNA testing, but only through blood work where something level is a little elevated. Is there any way I can get tested to see if I am a carrier of VLCADD? They were saying that technology hasn't really caught up to test this, but it seems too much for my an one year old to be on a restricted diet if he doesn't have it and maybe having a slight elevated level of the thing (i forgot what is called) in aceeptable?
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2008-12-22 |
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Is there any effect of fetal PKU on maternal blood phenylalanine levels? (Assuming the mother is a carrier, but does not have symptoms of PKU) View Answer |
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2008-12-10 |
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what is the life expectancy for a person that has phenylketonuria (pku)? View Answer |
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2008-12-10 |
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I see that others have asked what I have wondered about. Trimethylaminuria is not being pursued as a viable research topic and that an enzyme (artifical, manipulated or otherwise) is not available at this time. "At this time" - quite a curious observation - the implications of which are that SOMEDAY someone may take an interest. I have friends who take enzyme therapy to treat their pancreas. I have others who take enzyme therapy to treat various other disorders. I DO NOT believe that IF someone took an interest in this disorder - which ruins thousands of lives every year - a treatment could not be achieved. It's just not a sexy enough disease for someone to take an interest. Meanwhile - thousands suffer!!!!!!!!!!!!!!!!!!!! Many suffer in silence and unreported because they are too humiliated, poor or shy too be tested. Why won't ANYBODY help??????? View Answer |
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2008-12-07 |
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My son was recently diagnosed with S-CAD. For four years we thought he had Cyclic Vomiting Syndrome. He just missed 2 weeks of school because of the vomiting. I understand if he doesn't take L-carnitine, the fatty acids do not metabolize and become toxic and the vomiting starts. However, we were told by his Doctor that he must always have carbs in his system. Will the vomiting start if he runs out of carbs/energy.
Thank you! View Answer |
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2008-12-06 |
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Wanting to know if there is an established relationship between "Carnitine palmitoyltransferase deficiency type II" and "Macro CK Type I" levels?
View Answer |
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2008-12-06 |
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I have a colleague who is working eith a 19 year old female who has Isovaleric Acidemia.
My colleage has concerns about this young lady's well-being it has been reported that she has been isolating self, losing friendships, talking to self with loss of concentration.
Please can you advise if this could be related to the specific condition, to rule out physical conerns prior to looking at mental heath issue.
Please can you give advice where possible, many thanks View Answer |
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2008-12-02 |
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Can a child with a mild organic acid disorder, while on a perscribed diet, have an acylcarnitine profile that falls within the normal limit? His acylcarnitine C2 is always 2-3x higher than normal but the specific specimen, C50H, related to him 3mcc, sometimes is 0.11 (with normal being 0-1.11). These results are always on diet, not fasting when he is completely healthy. During this time the organic acids in his urine are also not elevated. Before he was put on the diet his C50H and urine acids were always elevated. One doctor says it makes him an unaffected carrier, another says he's just a mild case and precautions still need to be taken when he is ill. View Answer |
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2008-11-28 |
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Hi! I am a teacher at Sartaria Middle School and my students have come to me with a couple of questions. I was wondering if you could answer any of the following question. If you could answer any that would be great!!!! I really appreciate your time and I thank you for what ever you may give. Thanks again and Have a Happy Thanksgiving!!!
1. Classification of GP6D nas a sugar, protein, or fat.
2. Basic information on the structure of the GP6D enzyme
3. Identification of the substrate of GP6D
4. Information on the location of GP6D synthesis within the cell.
5. Explanation of the possible effects of GP6D deficiency on the cellular respiration.
6. Explanation of the possible effects of GP6D deficiency on carbohydrate homeostais
7. Explanation of the possible effects of GP6D on the functioning of at least 2 organelles. View Answer |
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2008-11-25 |
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My daughter was born with Glutathione Synthetase Deficiency and over all has been doing alright. In 2006 she started having seizures and no one could tell me what caused them. I started researching her illness more and came across some information that stated she could have seizures from this disorder. I checked with her doctors and no one would actually tell me the seizures could possibly be a part of this illness. She has had 3-MRI to the brain and the results are always nothing was found. During the first year I was told there was a small marking on her brain and they would do another MRI in a year to see if anything changed. I would like to know what other medical conditions do I have to look forward to. My daughter is now 11 years old. She attends public school, but in the last 3 years have started developing problems. She reads with very little understanding of what she read. She sometimes have behavior problems. I wanted to know if these of symptoms from this disease? View Answer |
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2008-11-18 |
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I am the youngest of three siblings. My parents' first-born died several weeks after his birth as a result of Maple Syrup Urine Disease. This was in the late 1960s and he was not diagnosed with the disease until shortly before his death. My brother and I were both tested as newborns and neither one of us has the disease. My questions is the following: I am planning to get pregnant and was wondering if I should be tested to see if I am a carrier of this disease? My husband had not heard of this condition prior to meeting me and he does not think that this is something that runs in his family...should we be concerned about the possibility that our children could inherit this disease? View Answer |
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2008-11-17 |
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My husband's sister had a baby born with argininosuccinic aciduria and he died on the third day after birth.
Is there a risk for me and my husband if we fall pregnant? May this be passed through my husband to our children? I know both parents must have the mutated gene, but how can I be sure we don't have it too?
I cannot bear putting the family through hell again. View Answer |
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2008-11-13 |
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I have 2 daughters aged 13 years and 7 years old and they both have cystinosis and have regular check ups at the hospital and both take regular different medications every four hours. There's been 2 occasions where my eldest has been admitted into hospital for complaining of severe aches and pains all over her body and constant pins and needles in her hands and feet, during the time she was in hospital they did several blood tests kept close eye on medication levels and said they couldn't find what was causing those pains and just said they believe she wasn't taking all her medications despite me promising and guaranteeing she has been as i make sure of it but i strongly believe there's an underlying problem elsewhere that's the problem and theyr'e not yet aware of it View Answer |
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2008-11-10 |
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If my son was screened as a newborn for MSUD and nothing showed up, is it possible now (he is 11 months old) that it can show up now? View Answer |
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2008-11-08 |
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I am a carrier of Urea Cycle Disorder OTC. I have never been symptomatic of the disease myself (my son is). I am scheduled to have surgery requiring general anesthesia in the coming weeks. Is there any special protocol for me since I am just a carrier? (Just to advise, I have had two natural childbirths, and one ablation surgery with twilight anesthesia in the past, all with no repercussions or ill effects.) Thank you for your advice! View Answer |
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2008-11-05 |
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My son has been diagnosed with Congenital Sucrase-Isomaltese Deficiency. He is soon to have a biopsy for Hirschprung's Disease. Are these two linked in any way.
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2008-11-05 |
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Hi,
I have had very high(in normal range and above range) Methylmalonic Acid (MMA) for at least 5 years and elevated (high normal) MCV for 20+ years.
I have been injecting Methyl B12, Hydroxy B-12 along with Dibencozide B12 sublingual for at least 3 years daily and my MMA and MCV will not drop.
I have the MTHFR C677T but I understand that works with Folic acid metabolism which I have issues with.
I do eat lots of protien and thought that may not be good. I have severere eye and mouth pain and can't sleep at night. My blood is very thick and I m always so achey with lots of joint pain and arthritis.
Can you suggest any mutations that could cause this problem of the B12 not getting into the cells?
tHANK YOU SO MUCH View Answer |
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2008-10-31 |
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My nephew was born 9/5/2008 and was screened for MCAD. He had genetic testing for 1 axon of the ACADM gene and both urine samples of the amino acid and the acylglycine. The results of the genetics showed him a carrier, and the urine amino acid was fine but the urine for acylglycine showed something. Another genetic test for the other 11 axons showed him a carrier status but the urine was too dilute to test. Are these tests conclusive without the other urine test results. What is your recommendation for these results? View Answer |
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2008-10-28 |
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My son was diagnosed with (SCADS) when he was 9 mths. aprox. He started Carnitor 3 times daily, Biotin and Thiamine and Keppra. He also started on a low-fat diet recently. I'm afraid the low-fat diet I was given was too "general" and that he might be eating something that he really shouldn't because his seizures got worse after his diet changed. The nutricionist that gave me the diet doesn't seem to have a clue about this condition. The neuro increased the dosage of medicine but told me hid=s diet needed some changes. I was wondering if there is any type of food that people with this condition are not recommended to eat (other than the obvious) such as maybe, rice or beans or sweet potatoes. What low-fat diet does he really needs to follow? What are the things he is really NOT supposed to eat? what are those he's recomended to eat daily? Is there anything else I can provide him (other than the medicine, vitamins, low-fat diet) to keep this condition under control? View Answer |
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2008-10-28 |
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My son was born with MPS II (Hunter's Syndrome) I want to know what is it that I could do to improve his intellect. His motor skills are not as effected as his neuro skills as he has several of the physical traits of the disorder.
I understand that he received this defected gene from me being that it can only transfer from the mother, I am not sure of my risk of having another child that could be born with this disorder but I have decided not to have one. Would a hysterectomy be granted in this particular situation? View Answer |
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2008-10-25 |
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Can TMA be categorised as a faecal smell, rather than fishy? I seem to have all the symptoms of TMA, and have suffered from it all my life. I was shunned at school, at work and as an adult. However, it is difficult to categorise the smell: I get the impression it is more like a constant faecal smell from breath and body. A recent clinical blood test revealed gamma-glutamyl transpeptidase as 251 UI/l, so I suspect a liver problem. Otherwise I am well. If not TMA, any other ideas? View Answer |
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2008-10-22 |
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My 2 year old son has GSD1a. He is doing wonderful with no delays or complications. GSD patients have to monitor there glucose levels aswell as some other blood levels which we have under control. My question is how close are researchers to finding a cure (Gene Theropy)? My other question is how long until the super starch (corn starch) will be on the market. I read researchers have been testing this starch which will allow GSD patients to sleep through the night, the hold up is getting FDA approval.
Thank you. View Answer |
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2008-10-20 |
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i am observing and doing a report on a child with Propionic Acidemia because she is in Speech Therapy. I don't understand how this disorder could lead to speech problems or the need for speech therapy. Could you possibly explain this? View Answer |
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2008-10-14 |
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Hello,
I am a 21 year old female with Raynaud's syndrome and a metabolic myopathy, which is specifically a carnitine deficiency. I am wondering if my symptoms will continue to progress as I get older, as they seem to be. Should I be having my own children in several years from now, or will they be at risk of having the same problems, if not worse? I am looking for some advice, as I was diagnosed with the carnitine deficiency by the University of Michigan about 3 years ago- and now have no clue what the name of the Dr. was there, who saw me. View Answer |
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2008-10-06 |
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My son has had jerking of his left leg since birth. He is 11 weeks old. We took him to the doctor where they found bleeds behind his eyes and on his brain. He has alwas vomited and had diarrhea. Today we took him back to the doctor because he is on Phenobarb but still having seizures. They found that he cant break down proteins and so they switched his formula. They also said that he had lots of blood in his bowl movements and that it was very aciddy. Were wondering if he would have Gluteric Aciduria Type 1. The welfare has gotten involved and taken our kids away. However we cant seem to get them to test for anything. They are stuck on Shaken Baby. View Answer |
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2008-10-03 |
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I have a son who is now 16 months old...he has been diagnosed with Methylmalonic Acidemia Cobalamin-C at 8 days old...since then he has been given treatment of the Cystadane powder, Carnitine and Hydroxocobalamin B12 shots (shots at once a week)...he currently has been "upped" his feeding to ensure he gets 9 grams of protein from foods per day....here's my question...
When is it ok to feed him meat? I understand that meat has very high levels of protein, however my mother-in-law and I were just going over the Gerber jars that have some meat in it...i.e. Chicken and Rice...which on the back of the label showed it had at least 2 grams of protein in it...would this be ok being that it would be included in the 9 grams we give to him? View Answer |
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2008-10-01 |
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I have a student in my 2nd grade class who has IVA. My question is concerning the unpleasant odor he has because of the IVA. Some days it is bearable, but some days it is almost nauseating. We have 22 students in our class therefore it is pretty close quarters for the students; most days are very unpleasant for them. We have 2 automatic deodorizer dispensers and keep several candles lit all the time and the odor is still pretty bad. My question is---Is there any sort of medication/treatment that can help control this horrible odor? View Answer |
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2008-09-30 |
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my cousine was married 5 years ago noncosanguinous marriage.till date the couple had 1 spontaneous abortion around 6 months and 2 child death each at 2 years of age. upon investigation the baby was diagnosed to have carnitine deficiency and melnonyl acidemia. i want to know genetics behind transmission , any possibility of havivg a normal child or any treatment possibility for child or couple. thank u. View Answer |
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2008-09-23 |
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I have been suffering from bromhidrosis for several years. I've tried all types of deodorant and nothing seems to work. My left underarm has a strong scent which seems to be an internal problem b/c I shower, wear deodorant. I've seen people make faces, don't want to sit next to me, and sneeze when i'm around them. I would like to know if I might have TMAU, I don't smell like fish but I do have a strong scent that is abnormal whenever I sweat or get hot. Please helP View Answer |
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2008-09-21 |
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I have had very frequent hypoglycemic episodes for the past 25 year plus constant fatigue, muscle pain and stiffness for the past 10 to 15 years that my family physician feels is fibromyalgia. I have coped with low energy since the age of 13 and have always been underweight. I have seen several endocrinologists and one said she felt the answer would be an enzyme deficiency, but she would not know which enzyme to test. I recently read about VLCAD deficiency symptoms in adults including hypoglycemia, muscle stiffness and muscle pain.
I realize there would be little to no treatment options for me even if testing were to confirm VLCAD deficiency. However, it would still be important for me to know this to validate my inability to fast for tests and procedures to avoid a controversy.
I would like to talk to my family physician about testing for VLCAD deficiency, but I would first like to know if you feel my history and symptoms reasonably justify testing for VLCAD deficiency. View Answer |
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2008-09-11 |
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Hello
i'm a carrier of SCAD Polymorfisme(heterozygote), also is my partner.
Our three girls are recently diagnosed of homozygote SCAD Polymorfisme.
The oldest has also a mitochondrial encophalymyopathy, n.o.s., PDD-NOS, developmental delay and epilepsy(onset 1.11 years).
My 2nd has also PDD-NOS, development delay and epilepsy (onset 2.2 years).
My 3rd is asymptomic.
As a child i also had hypoglycaemic episodes,epilepsy(onset 3 -8 years, ), and a grow problem.IQ >120.I also recognize symptomes of ADHD, but is not diagnosed
My question: As an adolescent my brests did not grow.Only the first "ring". by my sterilisation after my 3rd chlidr, te doktors had difficulty finding my ovarys( small ones) Can this be coused by carrying the SCAD Polymorfism gene, is it part of a (not earlier diagnosed)developmental delay, or could it be a symptom of an other syndrome?
I am 37 years old now, my weight is 44 kilo, and my length is 1.51.
Thanks for any reply
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2008-09-09 |
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I actually have 2 questions the first is my daughter has mcad and is 6 yrs old. She has had one episode at 15 months but has been fine since. We do not have her on her carnitor anymore and have not for a few years is it important that we have her on this medication? My other question is she has muscle cramps alot in the back of her calf is this related to her illness or just growing pains? View Answer |
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2008-09-05 |
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Is there a relation between congenital hypothyroidism and atopic dermatitis? View Answer |
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2008-09-01 |
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My son was diagnosed with galactosemia 5 days after birth. While he is only 2 months old, I am preparing for when solid foods are introduced.
However, I am confused about soy. I have read that legumes are high in galactose, including soy beans. If this is true, how can a soy-based (formula, "cheeses," "milk," etc) diet be so successful? View Answer |
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2008-08-29 |
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My son has been diagnosed with isobutyryl-CoA dehydrogenase deficiency. He is 5 months old and has developed calcium like deposits on his hands. We seen a dermatologist and she had never seen this in an infant before. She said it looked like Scleroderma. What is your opinion on this and is this a serious condition?
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2008-08-27 |
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My Son & Daughter in Law recently was seen by a Geneticist here in Birmingham, AL (Katie Rutledge). My husband & I have had 2 children with nonketotic Hyperglycinemia. Our second child died @ 17 days of age, and our forth child is now 19 years old, both had NKH. We have 2 healthy sons. Our oldest has recently married & is considering children in the future. He was tested and is a carrier of NKH. Dr. Katie Rutledge told them that the odds were 1:125 that his wife could be a carrier. My husband & I were seen by a Geneticist many years ago & I was sure the odds were less than this. NKH seems to more rare and with odds of 1:125 you would think it would be more common. Can you tell me what the odds that my son's wife would be a carrier? She is of no relation to us & has no specific family history. View Answer |
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2008-08-25 |
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What does this mean for my child and what would her prognosis be? Mild elevations 2 ketoglutaric acid and medium chain dicarboxylic aciduria.
Will she require a special diet or medical treatment?
She is currently 15 months old.
What meaning does this have on her life.
She also has mildly elevated Urine specific gravity, low CO2, mildly high chloride. Her platelets have been high in the 400's and low 500's during 6 of 11 blood test. View Answer |
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2008-08-23 |
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my nephew(10month old) has recently been diagnosed with homocystinurea. he has had a series of very complicated episodes, including seizures, clotting in the brain and bleeding. he has regained conciousness but seems to not respond with his sight, (i.e not looking at people). i know that this is a symptom of this disease but could this be a short term thing or is it total loss of sight. please could you try to elaborate on this and what are the treatments View Answer |
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2008-08-15 |
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My child was diagnosed with Duarte galactosemia shortly after birth. We switched to a soy formula for the first year of his life and he did exceptionally well. He's 4 yrs old now and we have a slight concern regarding an intermittent problem he has. From time to time, he will go through a 7-10 day stretch where he will have isolated vomiting and diarrhea. The geneticist that diagnosed the problem told us that he would require no additional treatment after a year. Is it possible that he's not processing galactose effectively and thus having the intermittent periods of illness? View Answer |
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2008-08-04 |
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I have a 27 year old son who has been diagnosed with G6PDD. He is blonde hair and blue eyed. Both my husband and I are Caucasian. Our ancestors (great grandparents) came from Sweden, Germany and England. There is no knowledge of any ancestors being from Africa, Asia, or the Mediterranean.
How can it be that he has this? Are there documented cases where a non African, Asian, or Mediterranean has this disorder?
Should we (his parents) be checked for this disorder? If we don't have it, should he be retested?
Thank you. View Answer |
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2008-08-02 |
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My son blood test show that he has high pyruvate could you explain to me what is pyruvate? View Answer |
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2008-07-27 |
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Is there a test to determine if the parents of a child with acylcarnitine disorder are carriers? If so, is there a recognized labratory that conducts the test for the disorder? View Answer |
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2008-07-22 |
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I am almost positive I have T. M. A. U. I have not been tested. My daughter and her children have been dianosed with Adams Oliver Syndrome. My daughter has no toes on her left foot, her son doesn't either, one daughter has no toes all all, Her youngest daughter has four fingers missing nothing below the left knee and no foot on the side they are patients at childrens Mercy Hospital in K.C. MO. My other daughter has Aortic Valve Stenosis. My question is could this all be related and how could I get tested for T. M. A. U.?
Thank You View Answer |
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2008-07-18 |
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We are managing a child with glucose-galactose malabsorption who was diagnosed clinically.Where can I get genetic testing for this patient ? View Answer |
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2008-07-17 |
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Regarding TMAU, is it technically possible for gene therapy to be an option now in theory ? (assuming this is the best option). What I mean is, is it not currently available due to no interest and to lack of funding and unrealistic cost per patient, rather than due to the ability to make it possible. View Answer |
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2008-07-11 |
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At 2mo old my daughter's newborn metabolic screen revealed the Duarte variant. Her GALT level is 9.3 (norm18.5-28.5) with a galactose-1-phosphate level of 182. I have been exclusively breastfeeding since birth. She seems perfectly normal in development; very social, VERY alert. No jaundice, not fussy or colicky, no vomiting, and she is gaining weight sufficiently (born 7lb 7oz, 1 mo 9 lb 15oz). What level of galactose-1-phosphate has been associated with liver damage and neurotoxicity, any long term complications? I was told that I need to stop breastfeeding completely and switch to a soy formula. Why not monitor the galactose-1-phosphate closely along with liver enzymes, coags, renal function before insisting that breastfeeding cease immediately? I don't want to do anything to jeopardize my child's health, but does one elevated galactose-1-phosphate level warrant losing the benefits of breastfeeding?? View Answer |
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2008-07-07 |
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My son (17) was diagnosed with Fructose Malabsorbtion 3 years ago and has only been able to funtion with a severely restricted diet that has resulted in significant weight loss. I am looking for more recent info on this condition because his original GI has moved out of town. Questions: which gene is responsible for this? Is there any known enzyme or other ingestible material that would break down the fructose that is not absorbed so he would not be so uncomfortable? Are there any known surgical solutions such as intestinal transplant?
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2008-07-03 |
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My child was diagonosed as SCADD. His ethylmalonic acid level is high but acylcarnitine profile is normal. My son is 1.5 month old and don't have any symptom till date. He feeds well and leads a normal healthy life. How dangerous the SCADD is? Is it affect the normal life. Is he don't get energy? During my pregnancy on ultrasound Doctor told me that in baby's kidney there are some fluid and my baby does not urinate and also told that after his birth my pediatricians may do a ultrasound and cure it. Is this related to high ethylmalonic acid? My pregnancy is nomal. No risk on my pregnancy. Please ask my questions. I am waiting for your relpy View Answer |
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2008-06-30 |
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I am a 53 yr. old female who has had a constantly elevated level of MMA in spite of a program of B-12 injections. Plasma levels: 411- 4/08, 531-5/06, 409-7/05, 437-3/05, 348-12/04. A Metametrics Organic Acid profile in 10/07 showed high urinary levels as well. My kidney function is normal. After an initial "loading" dose injection schedule, I began injecting B-12 3x per week in 12/04 and I remain on that schedule today. The form I used initially was Methylcobalamin. I am currently using Hydroxycobalamin. My doctor has suggested a switch to Adenosylcobalamin and we are trying to locate a source. Is it possible for an individual to be non-responsive to cobalamin therapy for high MMA? Do you think testing for a genetic problem is in order based on my history? What recommendations would you have since it appears that the current course of action to bring down my MMA levels does not seem to be working? Thank you for your help. View Answer |
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2008-06-11 |
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I am a mother who has G6PD and I passed it on to my second child who is a boy and is 8 years old now. I know of all the complications that can arise with our disorder. I have a 2 month old son who also has G6PD, but he was just diagnosed with Galactosemia. He needs further testing to determine what type of Galactosemia he has. My question for you is how should I care for my child with both disorders. Because of the type of G6PD we have we are limited to the types of medications we can take because of all the problems that we encounter I am worried that there are more medications that he will be unable to take. Please help me as I am a concerned parent who just wants the best for her child. I don't want to go through the trial and error that we had to endure with my older son as he ended up having Johnson's Disease and Kawasaki's Disease because of the medications that he was given. Thank you for taking the time to read and respond to my questions. View Answer |
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2008-06-11 |
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Hi,
could you please tell me if G6PD deficiency can lead to seizures?Thank you. View Answer |
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2008-06-09 |
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My boy, who was 6weeks premature, was diagnosed with Duarte Galactosimia but only the duarte mutation was found. His enzyme was a 6 which I suppose is a little over 25% inactivity. They are still looking for the galactosimia mutation and have put him on a lactose free diet for 6 months. When he was drinking the breast milk he was very healthy thriving and a peaceful baby. Now that he is on Prosobee he is extremely fussy, up at night and does not seem satisfied after eating.
My question is if it is possible for his condition of 25% inactivity due to his prematurity or is it an absolute that he is DG? Also, is it an absolute that he needs the lastose free diet or could he go back on breast milk now at one month old under observation? Just need a second opinion. View Answer |
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2008-06-03 |
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I have a four month old daughter who has been diagnosed with severe reflux and pylorospasms. In the process of being diagnosed with these problems we found elevated levels of methylmalonic acid in her urine. Subsequently her blood level was normal for CoA and CoB as well as the rest of her tests including B12 and homosystine. Her methylmalonic blood level was 2880. One month later it was down to 1800 without treatment and then one week later down to 380 after one B12 shot. I have been told that she will never grow out of this and will need B12 supplements for life but the doctor tells me he does not know if it is genetic or not? My husband and I are looking at having more children but do not want to risk having a child with classic MMA if we are carriers. Is there any way to determine what is causing this in my daughter and is there a way to find out if my husband and I are carriers? I am a nurse and not having all the answers is driving me crazy!!! View Answer |
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2008-06-02 |
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Is there any syndrome or genetic condition that includes being born without a thyroid gland (my child has such congenital hypothyroidism), and having large hands ?
thank you for your answer. View Answer |
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2008-06-01 |
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what is the treatment(in details)for female three months old with newly diagnosed (MSUD)and also follow up ? View Answer |
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2008-06-01 |
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my daughter is marrying into a family that has a child with Galactosemia. Is there a test that my daughter and her Fiance can do to see if they are carriers? As far as we know it is not in our family, at least no one has been diagnoised with this.
Thank you for your time.
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2008-05-30 |
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Is there a connection between congenital hypothyroidism and sensory difficulties, like low muscle tone, hypersensitivity to touch, hearing, and other?
Is there a connection between diagnosis of congenital hypothyroidism and Asperger Syndrome (Autistic Spectrum Disorder). View Answer |
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2008-05-21 |
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I assist a young mother and father with a 3MCC infant , now 2 months old. Can the infant get normal baby innoculations? View Answer |
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2008-05-18 |
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Hello, I have a 5 month old that per my clinic (riley)he is allowed to have all vegetables and fruit, while researching I find in many that certain vegetables are high in galactose such as peas, apples,...Can he have these safety?
Question #2--I am unclear how to find out if the forbidden ingredient is in the processing of the food. Please help any tools I can access to aid me in his dietary restrictions View Answer |
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2008-05-11 |
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My husband is a 38 year old galactosemic. Recently, he's been having extreme muscle tightening in his upper abdominal area, with queasiness and occasional shortness of breath. It is also disrupting his sleep. Could this be a complication of his galactosemia, and if so, what can we do about it? Thank you.
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2008-05-05 |
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Is there any way to have a baby without tyrosinemia herediratry which is problem for us that we are carrier for a genetic condition? View Answer |
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2008-04-25 |
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Hi there
I am just enquiring that..for example my boyfriend
(getting married soon) is a G6PD deficiency carrier,, will it affects our child in the future and how does it actually affect our child..
I am really concern about this matter as I recently became paranoid when my colleagues says that I should not marry such person with such genetic defects..
So perhaps you can clarify my doubts as to what extent it may actually affect me as the mother or my baby in the future..
Thank You View Answer |
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2008-04-22 |
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My son has recently tested positive for GA1. We have always known something was wrong and been from doctor to doctor. He is now 10 yrs old and had problems since he was 7 months old. Head jerks, tics, weak muscles, poor coordination and speech issues to name a few things. He's been in speech therapy and OT since age 2. The questions I have are, can you get a false positive, we are currently testing by blood and urine for a second time and awaiting results. Also is it at all possible to correct the damage in his areas of speech and tics with proper diet and more therapy? He has come a long way and we hope he can go further.Thank you for your time. View Answer |
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2008-04-22 |
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My son lives in Florida, he has been to several doctors with no answer for his fishy odor. We were told he should see an Endocrinologist.
He is 38 years old and has had this disorder for about 15 years, this had affected him greatly, with depression and his social life.Any infomation about what type of doctor he should see what be greatly appreciated.
Thank you. View Answer |
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2008-04-22 |
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Has a genetic test been developed that can test for Methemoglobinemia in utero? View Answer |
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2008-04-21 |
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I know that there are variants of Maple Syrup Urine Disease that manifest later than the newborn period, including later infancy and perhaps beyond. What are the tests that should be performed to detect MSUD if suspected later (i.e. plasma amino acid profile)? What is the likelihood of an otherwise healthy 3 month old with no family history of the defect and no consanguinity having one of these variants after having a normal newborn screen for MSUD?
Thank you. View Answer |
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2008-04-21 |
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My son is almost 4. He has had episodes since he was a baby where he would be soaked in urine from head to toe that smelled like maple syrup. We had him tested for Maple Syrup Urine Disease and Diabetes a few days after on of these episodes when he was around 18m. The tests were negative. He began talking when he was 12m and had a vocab. of 5 words when at 16m he had a sudden loss of speech and began to drool (the doctors never knew why). He only pointed, grunted and used sign lang. until around age 2 (he slowly began to speak again). He is still in speech therapy. He has also had surgery for lazy eye (Which didn't show up until he was 17-18m) has a slight head tilt not related to the eyes, and has weak muscles. He has had some autistic tendencies. He is intellegent for his age but is behind in anything that requires motor skills. Is there anything else that could explain the smell and massive amounts of urine and the other symptoms that all began around the same time? View Answer |
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2008-04-20 |
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I have been diagnosed with Fructose Malabsorption but have many related symptoms of metabolism dysfuction. Almost all of my relatives as far back as I know all have similar symptoms. I have read the info on hereditary fructose intolerance and wish to be tested, do I start with an endocrinologist or genetic testing? How much does genetic testing cost (I live near San Antonio Texas.) Please give me direction to start finding out for sure, thanks. View Answer |
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2008-04-15 |
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My cousin's third child was diagnosed with SCADD and has seizures and developmental delays. He and his wife have both been tested, along with their other children and all are carriers. Should anybody else in the family be tested? View Answer |
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2008-04-14 |
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As a child I was treated for congenital adrenal hyperplasia. The enzyme which I lack is 21-pregnino something. I am currently having great difficulty with waking up in the morning. This has been a recurring theme since I was about 14 (1 year after coming off of my cortef). I am under the care of both my general doctor and a sleep neurologist and neither seems to be concerned that I might need to see an endocrinologist regarding a possible link between my CAH and trouble waking in the morning. Sometimes I sleep 11, 12, or even 14 hours before waking. Is it possible that the my 21-hydroxylase deficiency could be related? Possibly a low blood sugar come morning? This issue has begun to take a drastic toll on my grades as I am a student and I am looking for answers almost everywhere at this point. Any information you could supply to me would be greatly appreciated. Thanks! View Answer |
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2008-04-11 |
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My son has LCHAD and I am going to have a other baby shuod I have this one test for LCHAD to? View Answer |
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2008-04-11 |
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My son is 14yrs old and has had a funny odor from his body for a few years. No one has really acknowledged this until his pediatrician commented last week. We went to see the genetics doctor today and he seems to feel he has trimethylamineuria. We will be sending his urine out next week via Labcorp. I have been reading some today about this and it is described as a fishy odor. I would not describe my son's smell as fishy. It is more a sweet but not pleasant smell. Without doing specific genetic testing is this an acceptable way to diagnose this via urine and is there something else I am missing. Thank you. View Answer |
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2008-04-09 |
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Where in the U.K. (as close as possible to Swansea) can I have a test to see if I am a carrier of Galactosaemia please?
I am quite willing to pay for it.
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2008-04-04 |
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how i can diagnosis Congenital hypothyroidism through molecular diagnosis View Answer |
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2008-03-31 |
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Hi There:
I have a two-year son that recently was treated for G6PD (because of fava beans), which to that day we were not aware of him not having this enzyme. I want to know if G6PD is part of the PKU screening in newborns and no, why not? Thanks for you time.
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2008-03-26 |
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I have TMAU (trimethylaminuria), positive by pheno and genotypes. I do not have a fish odor but more a garbage odor. Why is it always called fish odor and how could a group get the name changed. I believe it was called FOS = fish odor syndrome? View Answer |
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2008-03-22 |
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I suffer from a fecal odor (an aura) & 2 GI doctors, 1 Urologist, 1 GP, 2 Gynos, and 1 Dermatologist have all been unable to diagnose me.This aura has been going on for probably about 10 yrs.A few years ago my position was eliminated (after 9 yrs.) due to the financial toll of a company merge. Since then, I have been unable to hold a job for more than 5-6 mos. because no one can take the odor that my body emits. The fecal odor fills up the whole room. I am fired for nonsense reasons but they will never say that it is the odor because that would be illegal. Before my position was eliminated, I had NEVER been fired from a job.In doing my own internet research, I came across TMAU & think I may have this.I also suffer from IBS. WHERE CAN I GO FOR TESTING FOR TMAU IN MY AREA? NO DOCTOR I COME IN CONTACT HAS ANY IDEA ON HOW TO HELP ME. Normal testing shows that I am quite healthy.I cannot live like this because it is not living. View Answer |
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2008-03-18 |
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My son is 7 months, seems normal in every aspect, sits, stands. You name it he does it. His lab. results indicate he has a mild elevation in SCAD gene (butyrylglycine). After various months of diets, laboratories the doctor finally gives me a name for his probable, (acidemia lactica) when I look up information, I cannot find siimilarity with my son. How can I be sure I am getting the right treatment. View Answer |
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2008-03-18 |
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Hello,
I was researching galactosemia and I had a few questions I would really appreciate if they could be answered.
I learned galactosemia can causes serious liver problems such as liver enlargment. Does this mean alcohol is a big no no for patients?
Also, female patients with galactosemia have a high risk of ovarian failure. Do you have any statistics on women's chances of pregnancy? View Answer |
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2008-03-12 |
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I am a detective with the Colorado Springs Police Department. I am currently investigating a case involving a 4-month old child admitted to the hospital after having a seizure in which the child went "rigid" (as described by father of child). Hospital personnel diagnosed child with new and old brain bleeds. Parents seem appropriate and are cooperative. Mother has epilepsy and her family has history of epilepsy. Is there any relation to Glutaric acidemia as a child and the development of epilepsy as an adult? View Answer |
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2008-02-27 |
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I want to know whether testing/treatment of Isovaleric acidemia (DISORDER) during pregnancy possible.We here in pakistan do not have such type of facility.I have already lost my two (active absolutely normal at the time of birth) male babies just after 4th and 8 th day of birth.I have two female babies with quite good health aged 7 & 5 years.I have got test of my last baby (aug-2006) from king faisal specialist hospital riyadh saudia arabia they diagnose the error as ISOVALERIC ACIDEMIA.
Now my wife pregnant in 10th week what should i have to do i hope you can help me before its too late. My age is 41 while my wife is 40.
Waiting for some favorable and urgent reply. View Answer |
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2008-02-22 |
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I had a baby girl in Dec 2006 who was diagnosed with NKH right after birth. She had global developmental delay,refractory seizures, tube feeding and died at 8 months of age. She was diagnosed on the basis of CSF:PLASMA glycine ratio (0.13). We didnot get her liver biopsy done.
I would like to have a second child. Ours is a non-cosangiunous marriage with no suggestive family history.We do not have any other living child.We would like to know about CVB & amniocentesis for prenatal diagnosis. Will it be reliable as we do not have her mutation studies or GCS enzyme assays? What are the chances of a false negative report? Will adoption be a better option? View Answer |
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2008-02-19 |
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I have the g6pd deficiency. I am wondering whether I am related to eveyone else with this condition. I am black; would it be safe to assume that my ancestors were likely from the regions of Africa with a high rate of g6pd? Thanks. View Answer |
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2008-02-17 |
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Can emotional stress on 6 year old child w/OTC Urea Cycle disorder jeopardze her? Diagnosed a month ago, my concern predates her this. Mom shows classic stockholm syndrome. Married 5 years. 2 yr post divorce still controlled & shows learned helplessness. The difference in her is stark. Neg.changes in child after visits with dad. Mean comments, above her vocabulary. Ill after visits Won't make eye contact for hours after visit home.Behavior problems at school too- same pattern. Won't cuddle-love after visits. Antisocial trend gone after hours away from Dad. Riley Hospital banned dads girlfreind 3 times for public intoxicaton. Witnessed verbal assaults on mom in front of the child."mom don't love you", Usees her like a pawn Now diagnosed with UCD, the concern has grown. We worry about the effects on her health. Should there be an evaluation by observing the stark contrast in behavior?
Your opinion is appreciated. View Answer |
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2008-02-16 |
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I have had episodes of malapsorption throughout my life, at first I was given digestive enzymes, that seemed to help now 20 yrs later, I sem to be having trouble again. I seem to have carbohydrate intolerance, when It happens I get the same sort of reaction a diabetic gets in that I get week , dizzy could pass out, heavy feeling in my headand I have to eat, usually protien related, magnesium in a pump has helped a great deal but some days even that`s not enough. I have to eat between evry 2 to 4 hrs, always protiens, I have recently beenn able to add soy. Does this sound like anything you`ve heard of in this area of medicine, This last bout was brought on by an epinephrine injection( I`m allergic)??? View Answer |
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2008-02-14 |
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my son was diagnosed at age 2 with pdd nos.he is now 5.he had some form of regression back in october of last year,i.e. not being able to get up from a laying position and a sudden loss of some of his words.We took him to another neurologist and he ordered a battery of tests.the tests came back with high levels of ammonia and amino acids.We just saw a genetics specialist yesterday and he is rerunning all the tests.He said its something called hyperbetaalaninemia.Its considered a urea cycle disorder.my problem is we know nothing about this and we are trying to get some basic information.We dont know what kind of urea cycle disorder it it .we try googling the diagnosis but nothing specific pops up . View Answer |
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2008-02-14 |
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What does the consumption of alcohol have on an individual?.Will alcohol registrer quicker or higher in a person, with G6PD, than a person that does not have it?. View Answer |
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2008-02-13 |
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my daughter is now 6 months . she was first diagnosed at the age 4 days with methylmalonic acidemia
her ammonia was 200 and after taken b12 it decreased to 100 then to 44
we travelled to german and they took skin biopsy from her to conclude whether she is B12 responsive or not but after 3 mnths the result appeared with unknown mutation so they couldn"t conclude about B12 responsiveness
on the other hand her dr in saudi arabia told us that he is sure that she is responsive to B12 because of her growth development .. etc everything is ok and he decrased b12 injection from everyday to day after day and she is ok and he wants to decrease it to 2 times a week
Now is there another way to conclude her B12 responsivness
please tell me all what I can do according to her case ??
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2008-02-12 |
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What is the incidence of Glutaric acidemia type2 presenting in neonatal period? View Answer |
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2008-02-11 |
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My son has been identified as a Carrier of Galactosemia. Hi mother (myself) has had elevated liver enzymes for 12-14 years. Question is, does the mother have Galactosemia or possibly a carrier? This rare condition can create many of the symptoms I have dealt with for years. View Answer |
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2008-02-04 |
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My son's doctor recently order blood work due to a number of problems. She thinks it could be a metabolic disorder. She ordered lactate, amino acid quant., xfat long chain fatty acids, and P or B 10 (not sure if this is correct). She ordered the last one because of a large head circumference. Can you tell me what she might be looking for specifically, especially regarding the last one? View Answer |
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2008-02-04 |
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recently we diagnosed a child with multiple carboxylase deficiency and he died due severe acidosis and unavailability of biotin.....but the couple has questions for further pregnancies, so could you guide us if we have some method to diagnose this condition antenatally. View Answer |
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2008-01-30 |
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When can a child decide he or she doesn't want to follow prescribed diet for pku any longer and just have a normal life? Knowing the assumed consequences and understanding said consequences. View Answer |
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2008-01-29 |
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I am emailing regarding my 6 year old daughter. She has frequent UTI's. She has frequent accidents and still sleeps in a pull up. Overnight she can fill a pull up and it always has a very strong odor. She has suffered from a foul odor in her urine for a couple years. One doctor tells me the 'fishy' odor in her urine is a sign of infection but yet another doctor says they are not related. She just got test results back yesterday from her UA that showed positive for white cells but negative for bacteria. So they say she does NOT have an infection. I was looking online and what I came across was TMAU (fishy urine odor). She's had test after test (xray kidneys, catheter dye test, UA after UA)....it seems to go away when they keep her on a maintenance antibiotic dosage but they have sinced stopped that. I'm concerned they are missing something. Should I be seeing a Genetist instead of the Urologist? Are frequent accidents related to the fishy odor in her urine? Thx View Answer |
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2008-01-25 |
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My grandaughter tested positive for trimethylminuria(TMAU) last week. She is 3 yrs old & was born with 1 kidney.She had a urine/choline test.The test was ordered after she had an episode of smelling fishy after consuming calamari for the first time. Dr. Halpenny was quick to order the test since she has just the one kidney and a compromised kidney can be a trigger. I read that this testing should be done twice. Do we insist on it if the doctor doesn't order a 2nd test? Are there ever false positives in this type testing? How will we determine if this is Transcient Trimethylaminuria or the lifelong type? Are you aware of any institutions or research centers that specialize in this disorder? How are the genetic tests for parents & sibs administered? Do they take 2 months as well? Our family is just devastated at this diagnosis. Any advice or referrals that you can offer would be most appreciated as there is so little information available.Thank you! View Answer |
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2008-01-23 |
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My daughter was born with a slightly enlarged clitoris. She was tested in the hospital for CAH. It was negative. Her endocrinologist, in the hospital, said she has a normal vaginal opening and no labial fusion. Since birth, she is now 18 months old, her clitoris is of normal size per her pediatrician. My questions is, is there a explanation for this i.e. AIS/genitic reason or is there no need to worry?There is no know history of AIS in my family. I don't think they did a karaotype or a pelvic ultrasound. View Answer |
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2008-01-17 |
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Seven years ago, I had a son who was born with and died from Orthinine Transcarbamylase Deficiency. They tested my son and myself and came to the conclusion that I am not a carrier. I was also told at the time that it would not have anything to do with me having Polycystic Ovarian Syndrom (PCOS), which now, after a miscarriage find out that PCOS can cause all sort of issues. So, I am raising the question once more. Could PCOS have caused a genetic mutation that would cause my son to be born with OTC? You obviously would not know for sure, but could it?
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2008-01-17 |
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Can a child with ethylmalonic aciduria safely recieve general anesthesia or oral sedation in a dental office for a procedure? View Answer |
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2008-01-15 |
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I have noticed that when I used anything with aspartame in it, my speech and thought process was greatly affected. I used to drink TONS of Diet Pepsi and then Diet Coke. Also sugar-free gum. Since I've totally cut everything from my diet that contains aspartame, I don't have nearly the problems. Could it be that I have a slight case of PKU? If so, should I contact a doctor to be tested and/or be on a special diet? Thank you. View Answer |
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2008-01-09 |
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My daughter is a carrier of galactosemia. I understand carriers do not show any signs of the disease, however she was a "congenital cataract" She is 6 years old and they found this only this year because of school screenings. Could this just be coincidence, or could it be related to her carrier status. Is there anything else we should be concerned about with carriers? Also, I understand that it is an autosomal recessive gene, in which both parents are carriers of the gene, does this mean both me and my husbands parents are carriers and so on and so on back up the family tree? Or do genetic "hiccups" just happen where there is no genetic mutation in any of the family hx, but it just appears suddenly? Thank you. View Answer |
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2008-01-09 |
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In identical female twins, is it possible for one of them to have G6PD and not the other one? View Answer |
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2008-01-06 |
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My 2 year old son nearly died when he was 11 months old and was diagnosed with MCAD during our month long hospital stay. Since being out of the hospital he has regressed back to the state of a newborn and is starting to slowly recover. He has been diagnosed now with autism but I wonder if it is not really just from the MCAD episode. He is on a restricted diet and has had no complications from the MCAD since. He has also developed a seizure disorder but our neurologist is stumped because he says that there is really nothing wrong with his brain on tests. So, my question is how often is a child with MCAD also diagnosed autistic and could there be a correlation between the two.
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2008-01-06 |
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My 3 month old Grandson has NKH - since birth and is on Benylin and Sodium Benzoate, he cries, moves well and can suck a little, but is fed via a NG tube he also has a stoma bag fitted...he is really beautiful and we love him so very much , he has shown so much fight for life . My question is ...are there Glycine free foods or drinks that can be made up for him. He is on Xgly Analog baby milk and seems to thrive but what can he progress to later if his sucking improves ? He is visiting Gt Ormond st childrens hospital in London in February to decide how well he sucks and swallows, my daughter and I would really appreciate some advice as it is a very rare disease over here and all seems such trial and error by the medical experts although they are sympathetic, they didnt expect him to live this long anyway, but he is a little soldier and keeps fighting. Kindest regards .... hope you can help us View Answer |
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2008-01-06 |
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hi my brother was diagnosed at age 20 (six yrs ago) with the OTC deficiency, at that time we didnt know anybody in the family with that disease but just recently about five family members from my mom's side thought to be affected because of elevated ammonia levels in their blood and two of them passed away (19 and 25 yrs old brothers) after going into coma, my question is what testing should be done to diagnose this disease because one of the guys that passed away after going into coma had the ammonia blood test and it was normal about 3 or 4 months before his death so he thought he was okay, also I wonna know that if my brother is taking a medication for that disease(buphenyl and citrolene) how likely is it that he will have elevated ammonia level especially that now he cant go to doctor because he doesn't have health insurance. View Answer |
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2008-01-03 |
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My daughter is ten months old, hypotonic, has a strange smell in her urine and a strange smell in her sweat(what I liken to the sweaty feet odor) Recently her pediatrician sent urine for amino acids and it came back high (141) for 2 hydroxyglutaric acid . IF 2 HGA shows in urine is that a true diagnostic indicator for MADD? View Answer |
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2008-01-02 |
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My son has MCADD. And is having problems with feeding.We tried to switch him to Similiac Senastive, but the WIC office said it was not good for his health. They are saying there is a special formula he should be on. I am just really confused and can not seem to get a straight answer. Is there a correct formula he should be on? Please let me know. View Answer |
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2007-12-27 |
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I have a recessive gene. My son was born with carnatine transport deficiency, and died 3 days later. My husband and I are both carriers, and my question is, what can I do to reduce the chances of having a child without this condition. View Answer |
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2007-12-17 |
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If a child has had a chromosomal array, microchromosomal array and has been told that both XX's are fine. Is it possible that they still could have Hunter's Syndrome or be an affected carrier? I understand that this is a predominately male disorder, but this child's symptoms appear to be a mild form. Are there other disorders that mimic it's symptoms? View Answer |
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2007-12-15 |
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Myself and my 2 children have been told that we have duarte galactosemia. My mother believes she has it but has not been tested yet.My question is this, my mother is allergic to bactrum and so am I. She gets mild side effects and I get the severe ones. My 2 year old daughter just had a x-ray done and the doctor told us that she has sinusitus and has prescribed her bactrum. I have picked up the medicine for her, but I am so hesitant on giving it to her, being afraid that she will also suffer the side effects of this medicine.If you have duarte galactosemia or are a carrier to it, is there any known medications that a person should stay away from? And is there any way at all possible that duarte galactosemia or galactosemia have been linked together with G6PD disorder.we have had "milk challenge protocol" and have her blood drawn to make sure her body was processing the sugars. The test results came back normal, so she is now able to drink regular milk on a normal basis View Answer |
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2007-12-12 |
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In methylmalonic acidemia, is there a schedule of feedings that must be adhered to in order to maintain adequate nutrition for this disorder. View Answer |
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2007-12-11 |
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Is there a link between Epilepsy and MCAD?
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2007-12-10 |
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I am doing a project for my school. I chose a disease and i got GALACTOSEMIA.
i have a question about GALACTOSEMIA.
1) What chromosome is involved?
2)What is thw survival rate?
3 What biotechnological applications are currently being used in fight against this disease?
Thanks for helping View Answer |
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2007-12-02 |
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my daughter is beta ketothiolase deficient and I would like to know if a low fat low protein diet will ease her symptoms? she is 2 and a half at present. Or if there are any measures we can take to improve her symptoms. thankyou very much View Answer |
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2007-11-28 |
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My newborn grandson was diagnosed with galactosemia. My question is I've been ill for a while with recent development of seizures that affect my speech and neurological problems along with other systemic symptoms I won't mention all of them now. I have been searching for answers to my problems. Is it possible that I am a survivor of galactosemia and that my symptoms stem from that? I never heard of this before now. View Answer |
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2007-11-27 |
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My wife has OTC deficiency, as does her mother. In my wife's first marriage she had 2 sons - one who is 17 and one who died at age 2 1/2. My wife and I have a daughter, who is 7. Despite knowing of the disorder our local health care provider does not run test or seem to take much interest in the disorder. Our daughter has never been tested and my wife has not been tested in our 8 years of marriage. Should test be run? And if so, how often and how important are they? Thank you. View Answer |
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2007-11-27 |
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My son has Isovaleric Acidemia disease, he is 18 1/2 years old. He informed me that his girlfriend is pregnant. What problems may occur with his unborn fetus? View Answer |
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2007-11-26 |
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I have a 7 year old son with Glucose Galactose Malabsorption. I am pregnant and want to know if I have an amniocentisis done would they be able to see if this baby also has GGM. It would really be helpful to know this. View Answer |
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2007-11-13 |
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My son was recently diagnosed with having Homocystinuria (MTHFR). Apparently there are only a handful of these cases. We feel he is getting adequate treatment, but want to make sure he's being seen by the BEST of the BEST doctors. Can you recommend a top ranked specialist or clinic for his particular condition? Thank you very much!!! View Answer |
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2007-11-09 |
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Respected Sir/Madam: I am from INDIA.My sister is living in Saudi Arabia.On 22nd,oct,2007 she gave birth to a baby girl.For the first two days after the birth the baby was normal,but after that she is unconscious till 4th oct,2007.Doctors diagnosed Citrullinemia for her.But from 4th,oct,2007 she is conscious till today.I would like to know whether is there any possibility to cure the disease completely.If so will she get any problem because of the disease in her future life. View Answer |
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2007-11-06 |
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If I am a carrier of Duarte Galactosemia does this affect me? I just recently went for a blood test because my baby sister has suffered from being a carrier of duarte galactosemia and I found out that I am a carrier as well. According to internet resources, Duarte Galactosemia is almost like being lactose intolerant, I drink milk all the time. Does this affect me? Do I need to stop drinking milk? I also heard that it can cause speech deficits, learning disabilities, and ovarian failure. Please let me know how this affects me and if it affects me. Thank you! View Answer |
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2007-11-05 |
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Medium-chain acyl-coenzyme A dehydrogenase deficiency.
My nephew has just been dianosed with this condition. My Husband and i are currently trying to conceive, and are wondering what are the chances of our baby having this condition?. Can and should we be tested for this to see if we are carriers? and if so what do the tests involve ?. It is my Husbands Sister who has had the affected baby. It has never affected anyone in my family.
Look forward to your reply. View Answer |
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2007-10-29 |
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I had a brother that died 11 years ago from MPS II. It is a proven fact threw a test that was done at your facility that my mother is a carrier. I also had 2 cousins from my mother's side of the family that lived in Puerto Rico that died last year also from the syndrome. There is 1 more boy left in my family with the syndrome. He is my cousin's son and he also lives in Puerto Rico. I would like to have this test issued on myself as well as my 2 daughters. I plan on having another child within the next year but before I do so I would like to confirm whether or not I am also a carrier. I would greatly appreciate a quick response in regards to the test. View Answer |
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2007-10-23 |
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My son suffers from the very rare condition,Malonic Aciduria.
He is twenty three years old and has just been diagnosed with kidney stones and i just wondered if
the Malonic aciduria could contribute to the development of kidney stones. View Answer |
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2007-10-23 |
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I have recently been diagnosed with a carnitine deficiency after a 3 week bout of severe muscle cramping and weakness. I have had these episodes for the past two years, every 4-6 months, this one being the worst. I am currently 9 weeks pregnant and have read about an incidence of carnitine deficiency in pregnancy. This is the first and only time my levels have been tested by the neurologist. Is it possible that this is strictly related to my pregnancy or could it also be the problem that has been plaguing me for the past two years? I would very much appreciate any insight you may have. Thank you!
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2007-10-20 |
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I've been diagnosed of favism two years ago and i am intolerant to all kind of legumes, genetists are having some problems to check my variant. I am sicilian prolly arab descendand can u tell me some about similar variants from that area?
thanks View Answer |
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2007-10-14 |
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We have a 30 year old client with propionic acidemia. He is profoundly mentally retarded with seizures and muscle spasticity. Apparently he was given a low protein diet as a child, but his condition only worsened. Is there any benefit to specialized diet or use of carnitine in this type of adult? Any other treatments? Thanks very much. View Answer |
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2007-10-02 |
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My 5 month old son has G6PD. I understand about what drugs to avoid along with Fava beans. My question is are there other foods to be avoided? I've seen things such as soy, blueberries, red wine and all legumes, but I do not believe those things are problematic since they are not vicine/convicine foods. Is this true or do we need to avoid these things as well? He has mutation C563T. Thank you. View Answer |
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2007-09-22 |
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On May 18th this year, I had my second baby who was called to be retested for the biotindefic.On his second test he obtained the result of 3.4 nmoles/min/ml.The first geneticist were Dr. Cec?lia Micheletti. She, during that first week, while we waited for retest results, prescribed 10 mg of biotin daily. After the result of 3.4, she told us to stop completely the use of the biotin.During that period, we consulted another pediatrician, Dr. Mauro Toporovski, because we heard he already has 3 other patients with the same Deficiency and that made us calmer and more secure. With the result of 3.4, he told us to give 5 mg of biotin daily to our son and wait until he completed 3 months. Then, he should be retested to verify if his result improved or not. Besides that, my husband and I still cannot understand the following: if the normal level of biotin in a person is between 5.0 and 10.0, why the difference of opinion in giving him the biotin? Thank you so much for your attention. View Answer |
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2007-09-06 |
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Could MSUD ever appear in adulthood? If not, what else could make urine smell sweet like syrup?
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2007-09-05 |
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My newborn son was diagnosed with a partial biotinidase deficiency. We were referred to a metabolic physician/biochemical geneticist and he prescribed 5mg of biotin daily but is this something that is commonly taken for the rest of his life? I understand that it's not a life or death situation if he misses a day or two of biotin, but it does worry me that something could go wrong at such an early age with regards to his development. View Answer |
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2007-09-04 |
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When one needs to start treatment for a newborn with a 3MCC deficiency? Does this deficiency disappear with time and more testing? View Answer |
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2007-08-26 |
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I have TMAU. I understand what causes it. My previous question was, "Why have mutations on the FMO3 persisted in our species when they confer a disadvantage? You answer was that the odour of individuals with TMAU varies over time and "therefore does not effect the genetic fitness of the individual." This is unsatisfying. It is true that the odour is sometimes not so bad, other times moderately bad and at other times really stinky. This depends on the amount of precursers of TMA the individual has eaten and the degree of residual hepatic ability to produce the enzyme flavin mono-oxygenase that oxidises TMA to the non-odorous TMA N-Oxide. But despite the variying intensity of the odour it seems reasonable that over evolutionary significant time spans the individual with TMAU would still have less breeeding opportunities. So the question remains, Why have the mutations persisted? View Answer |
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2007-08-18 |
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I was wondering if Urea Cycle Disorders, specifically OTC (ornithine transcarbamylase deficiency) can cause Carnitine deficiency. I understand Carnitine deficiency, can be a secondary condition to other metabolic conditions, I was wondering if OTC was one of them. My daughter has OTC. View Answer |
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2007-08-17 |
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Hi there..I have a 5 year old daughter diagnosed with an unclassified metabolic disorder. She has a long medical history with frequent hospitalizations, fasting intolerance and decreased arousals. Initial lab tests were inconclusive but ruled out ketolytic defects thru fibroblast study. She continues to present with high levels of ketones in her blood and blood sugars are very unpredicatable. She now has some mild neurological involvement with an abnormal EEG and possible nocturnal seizures but development is on track. (Thankfully) She is on corn starch nightly and takes carnitine 3x a day.She recently was hospitalized with a fever that started at 9 pm and by 12 midnight.. she was decompensating quite quickly. We took her to our local hospital where she was admitted and put on her dextrose. Her amino acid panel came back significantly worse with deficiencies in alanine, theronine, isoleucine, tyrosine, serine, and lysine. Her urine organic acid profile came back with "marked increase in 3 OH butyric and acetoacetic (ketosis) and moderate increases of adipic, suberic and sebacic acids. Her free fatty acids were also elevated. Acylcarnitine panel was slightly abnormal with elevated C18:1 oleylcarnitine. Our team of Doctors are "perplexed" by her results. I was wondering if you have any thoughts on SCHAD defieciency in this case. All the research I have read states that this is the ONLY Fatty Oxidation Disorder that CAN present with high levels of ketones. ( even with normal blood glucose) Where could I get more information on SCHAD? I have read that SCHAD is in islets of langerhorn cells and contribute to blood sugar regulation... She has suffered with blood sugar dysregulation since a very young child. (5 hour glucose tolerance test was given and she went into significant ketosis at hour 3 with clinical symptoms (after injesting 27 grams of glucose in the beginning of the test).Do you have any other thoughts on possible tests to run based on her abnormal biochemical tests?(GSD 0 was negative, currently testing for GSD 3b, Scot Deficiency and beta? negative)THANK YOU SO MUCH FOR YOUR INPUT. IT IS GREATLY APPRECIATED. SHE IS STARTING KINDERGARTEN THIS YEAR AND WE WORRY ABOUT ILLNESS AND FATIGUE LEVELS.(She is the 4th child in our family , her older sister has had some milder issues that resemble her also including documented BS at 39mg/dl in a lab.) View Answer |
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2007-08-14 |
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I am not a biologist, nor more than a lay reader of evolutionary theory, but I have a keen interest in these subjects and since discovering that I had TMAU I have often reflected on how the mutations on the FMO3 gene that cause the expression of genetically transmitted TMAU have persisted in the human population over time. My question is: why have these mutations persisted in our species when they confer a disadvantage that (presumably) would be selected against over evolutionary time spans and so be bred out of the population?
Thanks for your answer.
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2007-08-10 |
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Is there programs out their for people with IVA? View Answer |
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2007-08-09 |
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I have a 17yr old with non-classic CAH diagnosed when he was 7 and under going growth hormone therapy. He presently takes Prednisone daily. My question is he developed high blood pressure in the last 6 months, he weighs only 103lbs so I don't understand the relationship between these two or do they go hand in hand. I have two other boys, but neither is affected as I know off. Why is this? Will this effect their future children? View Answer |
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2007-08-07 |
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Our question is pertaining to OTC deficiency. We had a son 18 years ago who died at three days with the disease, I was tested at that time and was found to be of course a carrier. We have a 20 year old son and was wondering even though we were told that OTC Deficiency is fatal in males. Could a male of his age present symptoms of the disease, if so what might they be? Are there any test that should or could be done to confirm this in the male of his age?Reason being he sometimes seems more tired especially after eating beef. Any help you could provide would be greatly appreciated. View Answer |
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2007-08-05 |
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Hi is trimethylaminuria spreadable? View Answer |
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2007-08-04 |
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What test can idetify 3MCC condition in an umborn during pregnancy? Can it be identified by amniocentesis? View Answer |
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2007-07-31 |
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My 5 month little boy has a very strong under arm odor. The doctor checked and his newborn screenings were fine. What could be causing this and are there other tests I should hve done to make sure he is ok? View Answer |
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2007-07-28 |
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I had three children with rare metabolic disorders. My first child has D2Hydroxyglutaric Acidemia, Linear Subaceous Nevus Syndrome and Spondyloenchonromatosis. My second child had D2H and was stillborn.My son at birth was screened a second time for his sister's D2HGA. When the results came back, his homcystein level was zero, his MMA level was measured at 3,350. Treatment was immediately implemented and resolved after several months. When his homocystein levels were normal and MMA was zero to trace, we discontinued vitamin therapy. His diagnosis was Hydromethylmalonic Acidosis. I have not been able to find anything on his acidosis.My daughter was diagnosed with D2HGA thanks to the documentation of D2HGA in a patient by Drs. Chalmers and Nyhan in 1980, my daughter was born in 1991.My main concern of course at this point is the HMMA. He has been tested once since treatment was discontinued when he was about 8 years old. With levels as high as his were, is it prudent to have another follow-up test? This is something in unknown waters for me to tread.Due to early detection and treatment there was thankfully no resultant metabolic crisis to cause damage. He is now a healthy 13 year old. But, after living around metabolic issues for so long, I can't help but worry. View Answer |
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2007-07-24 |
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My 8 year old son was given the diagnosis of Trimethylaminuria in the UK. We were advised by the peadiatrician to have him re-tested as the results had appeared somewhat borderline. We have now moved to Canada and I am told by the local lab there is no testing facility available within Canada for this disorder. I find this a little hard to believe so would welcome any advice that I can pass to his GP on where we can have his urine tested. He had a 24 hour collection done in the UK. I do not wish to have my son on a restricted diet should it not be necessary so I am keen to have this test performed. Many thanks for your time. View Answer |
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2007-07-18 |
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What is the prognosis (in probabilities) for a newborn who was screened and found with 3MCC condition. View Answer |
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2007-07-18 |
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I am a 24 year old female with hyperphe PKU. I would like to start trying to have a baby by next year. I have been off my diet since age 7. I have read some information that recommends going back on the diet before trying to conceive. What do you suggest? Should I meet with a geneticist? View Answer |
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2007-07-16 |
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My granddaughter has MMA-Cblc. Is PGD currently able to detect this disorder. My daughter and her husband want more children and PGD sounds like the best alternative toward this end. View Answer |
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2007-07-15 |
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My first cousin's (female) second child (female) was diagnosed with Methylmelonic Acedemia (MUT-0). The child was diagnosed 2 weeks after birth and has been through may hospitalizations. She is now 4 years old and has a feeding "button" in her belly so that when she gets sick she can be fed her special diet. Although she is somewhat physically and developmentally delayed, she is, for now, healthy and "normal." The family's first child is unaffected, but recently they lost a child at 6 months gestation (stillborn). It was male and was found to be MUT-0 also. My cousin's mother (my maternal aunt) will not go for testing (to my distress), and my cousin's father is dead. I am very worried that the genes from this disorder may be carried by my own children (both females). Without my aunt being tested to see if it comes from my side, we don't know. Should I be tested or my mother? No one else in my mother's family has this, and we have a large family. I know that in order for a child to inherit this disorder that both parents must carry the gene, but not so for being a carrier. Where do I go for testing to see if I may be a carrier, or should I even be tested? Should my children be tested? My cousin's child is being treated by specialists at Baylor, and the mother is a perdiatric nurse practicioner. If not for her skills, the condition would have been unrecognizable for someone without medical training (like me). View Answer |
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2007-07-04 |
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My son is now 20 years old. He was first diagnosed at the age of 4 with methylmalonic acidemia. Now that he is 20 I am having troubling finding a Doctor who will treat him. Can you assist in finding a specialist in this area? View Answer |
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2007-07-02 |
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Hello My son 2yrs old has MPS111B. Both my Husband and I are interested on having another child. we both got our blood tested and the LAb cannot find the Mutation in Me. Is it at all possible to have only one parent pass it along to the Child? I am confused and I just want to be able to take the right steps towards having another child as well as having my siblings get tested for there own families as well. This has been a nightmare for us and now this makes everything even more complicated. Any answers would be helpful. View Answer |
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2007-06-20 |
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I would like to know how rare it is to have MMA and be A-typical. My daughter died after her first and only attack from it. We did not know she had it at all she was born completely healthy with no problems. We had an autopsy done and they found MMA + HCU. She had a problem with high levels of acid in her blood which was the clue to test for MMA but it was too late when they found it. I am just trying to figure out the rareness of what she had.
please help View Answer |
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2007-06-20 |
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I am the proud Auntie of a soon to be 4 year old nephew who at 22 months old was diagnosed with Beta-Ketothialase Deficiency after being in a coma for 7 days. I frequently look online for more information about this deficeincy however one nagging question is still unanswered. What is the life expectancy of these kids? Where are they? and how can I get in touch with other families? Can you help with these questions? I anxiously await your response...and Thank you. View Answer |
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2007-06-12 |
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Hi, i have a son who I am conerned about he is 3 years old. he does not look like the rest of my children and i am concerned he may have a metabolic /storage disorder. he has coarse features chronic diarhea short neck big wide forehead ( and lots more besides). Is there a genetic test that can rule all of these out? There is no history at all in my family of any genetic conditions other than atopic disease. Also is it possible that if my husband is mildly affected by a disease such as one of the mps's that he could have passed it to my son without me being a carrier? View Answer |
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2007-05-20 |
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My godson is currently bieng tested for vlcad. He is currently under the medication carnitine and drinkin a special milk called monogen. When on this milk he has had 4 seizurlike episodes, his body becomes stiff then goes liimp, he stops breathing, his face turns red and his lips blue, during this he is unresponsive. i am concerned are seizuers linked to vlcad or could this be another condition. i am not getting any answers from the doctors and they still have not gotten the genetic testing results in but they now want to do a biopsy. please help me if you can give me any insight on this matter. View Answer |
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2007-05-11 |
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HI! My daughter was diagnosed with PKU when she was born. Her endocrinologist now believes that she may not even have PKU, or she may have a mild form of it because her levels have been so low. He keeps pushing that we do genetic testing, but my insurance refuses to cover it unles it is a matter of life or death. How do we make it so the insurance company undesrtand the importance of this testing? We keep explaining to them that if she doesn't have PKU then she may not have to see the specialist anymore and it will save THEM money, but they don't care. Do you ahve any suggestions? There is no way that we could afford the $2000. Thank you in advance! View Answer |
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2007-05-07 |
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My 18 year old Grandaughter has MPS III B. She had been on Depo-Vera for one shot but it was recently discontinued. She lost several pounds, as expected; however, she has become extremely hyperactive, especially compared to her more placid earlier nature. Any thoughts on a causal relationship to DV, or any other experience with this type of occurance? View Answer |
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2007-05-07 |
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Based on tests done at Mayo Clinic, I have myopathic form of CPTll and I am going to have a back uoperation. I read where general anesthesia should be avoided. How does this affect and what should I tell the Surgeon or Anesthesiologist? I avoid strenous exersize, cold, and eat more often. As long as I do these things, I have been able to avoid severe attacks like I had before I was diagnosed. Also why should diazapan and ibuprofen be avoided? Thank you. View Answer |
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2007-04-30 |
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My neice (sisters child) has a daughter severely handicapped due to galactocemia. My question is, if this is an inherited disorder, should my daughter be tested for this before becoming pregnant? Thanks for any advice you are able to offer. View Answer |
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2007-04-25 |
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Hi, I am pretty certain that I have Trimethylaminuria (undiagnosed). I would like to know if I am a carrier of the PKU (phenylketonuria) gene does this have an influence on the reason I have trimethylaminuria? I have two children with PKU. View Answer |
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2007-04-24 |
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I am currently taking a genetics course at my high school and we have been studying phenylketonuria. I know that phenylalanine is normally converted to tyrosine and other compounds, but a mutation in the PAH gene prevents this conversion from taking place in affected individuals. However, I was wondering exactly how and why the accumulation of phenylalanine (or pheylpyruvic acid) affected the brain and other parts of the nervous system leading to mental retardation. View Answer |
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2007-04-23 |
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I have a 6-year-old child, from 3 years I diagnose with deficiencyof carnitina nowadays complaining that hurts(grieves) him the heart. I have taken it to two cardiologists and they find all good . what could be happening to him View Answer |
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2007-04-23 |
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I have two children with Isovaleric Acidemia. They where diagnoised with the disorder when theu where infants. I have read that some children have the on set of the disroder when they are older and some times is is brought on by a large intake of high protein foods. Could it be possible that my children could be able to eat a larger amount of protein as they get older? What amount of protein is suggested for groth and mantienceof cells and muscels. I would also like to know why is it that the disorder affects some people as infant and others when they are older. If they lack the enzyme that breaks down lucine then is should be the same with everyone right? View Answer |
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2007-04-08 |
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My niece (age 2) has factor X deficiency and was diagnosed yesterday with possible gluteric acidemia. Her doctors do not have much information on either of these conditions, but are doing the best they can. How can we find a specialist who has knowledge of these conditions? Thank you for your help. View Answer |
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2007-03-30 |
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Is there a cure for Glutaric Aciduria Type 1? View Answer |
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2007-03-27 |
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I gave bitrh to my son on October 11, 2007. He was diagnosed with Glutaric Aciduria Type 2. He was alive for only up to 2 days(48 hours). At first, the doctors told me that he had Autosomal Polycystic Kidney Disease. However, they had done a second test on his urine that they discovered that my son was actually suffered from Glutaric Aciduria Type 2. For your information, my husband and I are not sure whether our family or ancestors have this disease. My family and his are living a healthy life. My nephews and his are all healthy. It comes to a big question when suddenly my son(1st child) had this and it's the 1st 'history' happen to our family. Could you please elaborate more on this disease? Is there any prevention or cure for this disease? My husband and I are very sad that we failed to find a specialist to elaborate more on this disease in Malaysia . Eve the doctors can't help because they are not specialised. Is it true that this disease can only be found in certain countries around the world? Is it very rare? Any chances for us to get a healthy child in the next attempt? View Answer |
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2007-03-23 |
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I am hematologist ,working in Norway, My Wife &Me of Iraqi origin & we are not relatives. My son 2 years old admitted to hospital in convulsion status 8th of march 2007 & diagnosed probably L2 Hydroxyglutaric aciduri we are going to do supplementary tests with DNA &fibroblst culture to confirm diagnosis. I have another son 7 years old developed normaly not concern in movement &Teaching problem. As I read this disease is Autosomal recessiv ,thats mean me &my wife should be heterozygot to have a baby affected by this disease ,is there is other mechanism you are aware about it in this condition. we are off course concerned regarding other boy. Thanks for your advice. View Answer |
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2007-03-21 |
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Can my three year old boy suddenly be showing signs of maple syrup urine disease? He has been healthy his whole life, I noticed his urine always smells sweet and I mentioned this at his three year appt. They are sedning me to a geneticist just to check things out, but they told me not to worry. Is it possible for this disease to appear?
Thanks View Answer |
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2007-03-15 |
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We had a son with san fillipo syndrome who past away at age 25. Our daughter, age 28, is now pregnant and we are looking for a genetic center in new york that has the ability to test to see if or if she is not a carrier. Do you know of any such genetic facility in NYC that could do this testing?
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2007-03-09 |
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Can a child with MSUD eat Cod Fish or sauces made with beef, regular ice cream and fries. Would appreciate your answer, and if affirmative what amount is the appropriate. My granddaughter is now 9 years old and has MSUD which was diagnosed when a baby. View Answer |
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2007-03-06 |
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I have recently found out that my daugther which is 3 months old is a carrier of Galactosemia. This is what her results are: The observed GALT enzyme activity in red blood cells and the presence of two N314D (Duarte) alleles suggest that this individual is homozygous for the Duarte variant in the GALT gene. My question is: Does both parents have to have the gene for the child to be a carrier? I am so confused about this! Please respond!! View Answer |
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2007-03-06 |
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My son is 11 weeks and he has glutaric acidemia.... He is currently taking L-carnitine and ribflavin. He is also on glutrex... My question is, is it ok if i give him cereal in his formula at 4 months and if so, what is safe to give him.. Rice oatmeal or cereal with fruit? View Answer |
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2007-03-04 |
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I have a two year old daughter who was diagnosed at birth as having a hyperphenylalanemia. Her "mild PKU" is so mild that she was able to nurse on demand (following a small amount of the Phenex-1 formula - about 1 oz) and eats a relatively normal diet. We do not give her high protein foods but she can eat some yogurt, bread and pasta every day. She seems normal and is still "on diet". I have seen online about tetrahydrobiopterin deficiency and was wondering if they are the same. If so, does she really have PKU? Her blood levels have never been over 7 on diet. Ihave seen that you can supplement for tetrahydrobiopterin. View Answer |
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2007-03-03 |
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MY NIECE HAS THE CONDITION OTC AND HAS JUST FOUND OUT SHE IS PREGNANT.IS THERE A RISK TO MY NIECE BEING PREGNANT WITH THIS CONDITION. IS THERE A RISK TO THE UNBORN CHILD FROM THE COCKTAIL OF MEDICINE MY NIECE TAKES DAILY TO MAINTAIN THIS CONDITION.AS MY NIECE IS NOT ABLE TO EAT CERTAIN FOODS WITH HIGH LEVELS OF PROTEIN, WILL THE BABY BE DEPRIVED OF ESSENTIAL NUTRIENTS REQUIRED DURING PREGNANCY.IS THEIR A RISK TO THE UNBORN CHILD.FINALLY WILL THE BABY BE BORN WITH THE SAME CONDITION. View Answer |
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2007-02-26 |
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Hi, My daughter has Glutaric Acidemia Type 1. She is 10 months old. I have read a lot of info on the internet and I would like to know more about why she needs a Low protein diet. I have read that there is no evidence that this helps at all. Also, how can we find out how much her enzyme is working, if at all? I really appreciate your time.
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2007-02-14 |
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I am the parent of a 5 year old child with propionic. Is there currently any stem cell research being conducted on this disease? Could you please give me any current research being done on this disease? View Answer |
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2007-02-13 |
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I have a diagnosis of trimethylaminuria (primary). my qestion is, if this is a genetic disorder then can you explain how it can come and go intermittantly? It doesnt make sense that if the fmo3 gene is missing, (that breaks down protiens and causes the monooxegenase system to do its job) how then, is any relief of symptoms possible? View Answer |
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2007-02-12 |
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My daughter was diagnosed at 3 years, 3 months with Cbl-c defect. She is now 5, and takes hydroxycobalamin shots 3X week and levo-carnitine 3X day. Since starting treatment, her blood work has been completely normal, and more importantly, she hasn't been sick in almost 2 years. She has no mental or developmental delays, or any other side effects from late diagnosis. We were told that there are only about 240 known cases of this defect. Is this correct, and if so, why is it so uncommon? Since the medication is working so well can we expect her to continue doing so well? View Answer |
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2007-01-26 |
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My son, who is now an adult was diagnosed with Adrenal Hyperplasia at the age of 5. He was treated with hydrocortisone, throughout his childhood and as a youg adult.Do you have any information as to what to do as an adult,continue the Rx, symptoms to watch for, such as getting the flu, etc. He has one daughter. Any info you would have would be helpful.
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2007-01-24 |
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Its about disease call Phenylketonuria... I need to know if this disease is recessive, dominant, extra chromosome, or sex linked...??? And is the disease specific to one gender.. And... Is there a certain life expectancy.... View Answer |
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2007-01-23 |
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My daughter and her boyfriend have lost 2 children to methlymalonic acidemia. She had 2 miscarriages prior to the deaths. Unfortunately, we didn't learn what was happening until the death of their second child and she was sent to and diagnosed at Riley Hospital in Indianapolis. She is now pregnant with another child (7 weeks). Is there anything she can do during her pregnancy to help prevent losing her child? We keep reading about vitamin B. We have sent for a Newborn Screening kit. View Answer |
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2007-01-20 |
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My question is on Alkaptonuria, Can an adult have a sudden onset of this condition? I have recently in the past year noticed that my urine is turning black. I have some bladder incontinence problems and have to wear protection. When the urine sits on the pads for a short time.. it often turns black. Also if I am not wearing a pad and have leakage my underclothing turns black in the area that has been wet with urine. I am 46 years old I do not recall my mother saying I had this incident while I was small. I would appreciate any information you could give me regarding this condition. Thank you! View Answer |
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2007-01-19 |
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my baby was born with propionic acidemia and after six day -i would like to know how this disease can prevent for next prenancy or if you can do invitro with your egg and your sperm. View Answer |
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2007-01-17 |
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Suspected Arginase Deficiency - two year old daughter with Down Syndrome....cannot tolerate cow's milk protein and beef. She is on Neocate One Plus (Amino Acid based) and doing fine. I have pressed her GI doc into starting some metabolic testing because of her SEVERE reaction to accidental ingestion of milk. She almost passes out, vomits SEVERLY and is extremely lethargic even into the next day.One some recent bloodwork her Arginase level came back at 166.8 The norm is 15-120. Is the norm age-specific? After that test came back elevated, the GI doctor sent her for an ammonia level test. That one came back LOW. It was a 14. It was actually taken while her body was under the stress of a fever and ear infections. She is developing as normally as a child with Down Syndrome possibly can. She's beginning to walk with a walker toy. Does Arginase Deficiency doom her to a life of deterioration? Will she become severly mentally challenged and in a wheelchair even if we treat this disorder? Can't the progression be halted through diet and medication? View Answer |
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2007-01-15 |
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My husband's niece has methylmalonic acidemina. She has faced dealth on 3 occassions throughout her 14 years, including a kidney transplant. Brief background is as follows: 3 siblings involved: My husband (no children); Sister-in-law (no children); Sister-in-law (child w/ above mentioned). It is very hard for me to determine if this gene is a result of my husbland's parents (resulting in my sister-in-law being the carrier) or the child's father. Btw, my sister-in-law has another female child(different father) who does not have the condition. I am nervous about giving my husband a child because of this condition. Can you tell me what are the odds that my husband is a carrier of this gene? View Answer |
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2007-01-14 |
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What is the treatment for trimethylaminuria? I've tried almost everything to mask the odor. Stick deoderant, talc. powder.I don't know what to do about it. Nightline has done a story about it and said there is no cure. But I didn't know what I had until I saw the story,but there was only women in the story. I'm a male with this problem, it's very embarrassing when people think you just don't take a bath.I mean what do you say? I even tried going to my primary care physician, he told me "I don't smell anything". He's either lying or he doesn't know what it is. View Answer |
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2007-01-11 |
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My 14-month-old grandson's nightime pajamas usually smell like maple syrup, not his urine specifically. He has had no health problems up to this point, so I'm wondering if it is possible he has a form of maple sugar disease? Should he be tested, or should his parents? View Answer |
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2007-01-10 |
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With respect to one polymorphism in the G6PD gene which relates to malarial infection, can i please have an explanation of the alteration compared to the G6PD allele considered to be the ancestral or the major or the wild type version, and what is the type of mutation at the DNA level and at the polypeptide level? I am extremely stuck on a project of mine and would really appreciate some help! Thank you! View Answer |
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2006-12-12 |
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i live in donsonville La my son have Tyrosinemia type 1 do you know so one who have this i can talk to about this View Answer |
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2006-12-10 |
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I developed late onset osteoarthritis(at age 75)I had been told by an environmental allergist-Dr.Leland Green(Lansdale,PA.)that the cause of numerous health problems were basically environmental due to an imbalance of redox enzymes,and the low oxidase enzymes were causing the build up of toxins in my system.. Allergenic food and air were both involved,so I moved to a clean air wilderness area in Canada,,and used a low dairy-wheat-nocorn diet.After 14 years-this osteo set in,so I started to research my condition.Dr. Green also cited Cytochrome450 oxidase which was non-functioning.Since there were no genetic tests done in the 40's ,and no PKU testing until the 60's-our family was not tested .My sister was mildly retarded but functioning,We were all light-haired as children,but gradually darkened at puberty. Is there any connection between AKU and PKU?? Also-I do not go into ketosis-even on a less than 30 gm. Carb diet. Are there any definitive tests for a person who may be a heterozygote for Alkaptonuria,or Phenylketonuria? View Answer |
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2006-12-06 |
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hi i was diagnosed with propionic acidemia as a child and have to watch what i eat i have asked my local gp for information on this condition but he can not help me View Answer |
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2006-12-04 |
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Recently my week old nephew was diagnosed with Acyl Carnitine. We are curious as to how many false positives there are regarding this disorder. He is gaining weight rapidly and he has showed no symptoms of the disorder. We are all in a panic and would love some other information regarding this disorder. View Answer |
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2006-11-22 |
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How did the disease, (Canavan disease) get it's name. View Answer |
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2006-11-15 |
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My grandson whom is 8 years old now was born with digit problems on both hands , requiring surgery to remoove both thumbs, no pereffial vision in both eyes(dwains syndrome) alond with sensory issues and on the autistic spectrum,My brother whom is 47 years old recently diagnosed as lacking a enzyme to help brake down choline,research suggest a mutationFM03 gene,is there a relation between these two cases?He was told he has TMAU. View Answer |
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2006-11-10 |
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Hello,My maternal cousin is a carrier of MCAD (I don't know the specific mutation form.) Two of her three children have this condition. Her oldest was not diagnosed in time and now is diagnosed with sever MR.
I gave birth to my first son May 2006 and I am requesting genetic testing. Any insight or recommendations would be appreciated. Given the probability, do you thik I should wake my son every six hours for feeding? He currently sleeps 8-10 hours per night and not exhibiting any symptoms. View Answer |
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2006-11-07 |
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What is the molecular details of genetic basis of OTC deficiency? View Answer |
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2006-10-30 |
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my child is now 2yo and her last amino acid (serum) test had high levels of glutamic level was 2427, histodine levels were 3362, and valeine levels 260, and alph amin buty levels 102. she also had some abnormal organic acids as well : 3-oh-butyric level 21,gluteric level 19, and suberic 13. these were done at around 6moa and haven't been repeated we are developmentally delayed no speech and ?pdd/autism. what do you think we were on pregestamil formula at the time the samples were taken View Answer |
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2006-10-29 |
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My 83 yr old Aunt was recently tested for receiving a cochlear implant. Part of the testing included a blood test and she was found to have high level of methylmalonic acid. 667. The report indicated that normal was 88 to 243. She is totally deaf. In addition she has always bee cognitively slower than normal-but held responsible jobs, had a social life that was good. Recently she is in assisted living and has fallen quite a bit and now has a broken back ( healed) and a broken hip (surgery-healed). She won't eat most foods, only what she likes and is loosing weight. She has frequent vomitting spells, only mucous. Could any of this be a genetic disorder related to the methylmalonic acid levels? Should she see a specialist? or have genetic counselling? Thanks for any direction you can give me. View Answer |
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2006-10-27 |
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I am a caseworker with Family Connection Initiative working with a Grandmother raising her grandchild with Citrullinemia. We are dealing with issues with the school to enroll the child in Head Start. The school states in the IEP that the child is he is also Microcyphalic. Grandmother states she know what that term means. Could you help us and tell us the meaning? View Answer |
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2006-10-19 |
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I am lactose intolerance and wondering if this is a genetic condition. Would one of my parents be a carrier? This is for a university project. Many Thanks View Answer |
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2006-10-04 |
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My father was diagnosed with homocystinuria (not sure which variety) after a second stroke at age 49; two years later, both his kidneys failed and he's been in long-term dialysis since. I am now 30, and have yet to be tested. I take a general B6/B12 vitamin supplement due to my 13-year strict vegetarian diet.I would like to be tested to see if I, too, have homocystinuria and was wondering what tests to request, and whether the vitamin supplement would conflict with the tests. It looks a bit like the tests available are blood and urinalysis of homocystine levels and folic acid/B vitmin deficiency. Are these standard tests, or do they require going to a geneticist? View Answer |
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2006-09-29 |
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My 2year old son was born with congenital hypothyroidism nad he is on treatment,but hes thyroid is never stable it either goes way down or way up. He has been drinkin synthroiid since he was one month old and as it is right now he had to stop using the medication because he had a very high dosage of medicine in his immune system. The rare thing is that he has never presented a single syntom of sickness or any show of mental retardation or slow learner. As a matter of fact he is a very smart kid just like any normal kid . What i would like to know is if he will ever get to stop drinking medication and why exactly was he born with that sickness. Another question I have is what are the side effects of drinking the medication and what effects would i see my child have from any normal kid. View Answer |
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2006-09-19 |
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On my family there are some individuals with ornithine transcarbamylase deficiency, what test do I need to do to confirm if I'm a carrier of this condition? I'm pregnant right now and I whant to know if my baby could receive this contion?
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2006-09-13 |
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MY DAUGHTER IS 16 YEARS OLD AND SHE HAS HCU. SHE WAS PICKED UP FROM BIRTH BY WAY OF NEWBORN SCREENING. SHE TAKES L-CYSTEIN AND BETAINE AND ALSO FORMULA, MAXIMUM X-MET. SHE DOES NOT FOLLOW HER DIET WELL AND NOW HER LEVEL IS VERY HIGH, 206. IT SHOULD BE AT 30 OR BELOW. WHAT CAN HAPPEN TO HER WITH THIS HIGH LEVEL AND IF THE LEVEL CONTINUES TO BE HIGH OR HIGHER? THANK YOU. View Answer |
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2006-09-12 |
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Hello, I'm a graduate student at Towson University. I am planning to conduct my thesis on rare genetic disorders and I'm interested in Ethylmalonic encephalopa. Frankly, what are some of the short and long-term effects of this condition and is it possible for an infant live a long and healthy life with it? View Answer |
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2006-09-11 |
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I have a daughter who was born 7/22/2006 who has had a "strange metallic smell." This presented itself a few weeks ago. I took her to the hospital and her pediatrician. Neither one had an answer to where the smell came from. She has since had the smell come back. It started on her breath, then it was evident in her stool, and finally seemed to come out the pores of her skin. Just touching her would transfer the smell onto my skin. It would take several washings to rid of the smell. The first episode took approx 3 days and cleared up. The last episode took approx 1 week to clear. I read about a disorder called trimethylaminuria however, the description of the smell did not match. Do you have any idea what could have caused this odor? View Answer |
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2006-09-11 |
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My husband's nephew has had a child with very long-chain acyl-CoA dehydrogenase deficiency. Apparently he and his wife were both carriers of the disease.My son will be getting married soon. I would like him to be tested to see if he may be a carrier, since we don't know whether my husband's nephew inherited from the maternal or paternal side of the family.Is pre-marital testing ever recommended? What is the specific test that should be ordered and where can it be performed? View Answer |
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2006-09-09 |
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I'm a mother of three girls, age 10. 5 and 3. the oldest has a not specified metabolic disorder with developmental delay, epilepsy and behaviourdisorder. My second doughter has Scad polymorfism, with the symptomes epilepsy and developmental delay. My third dougter has recently been diagnosted on SCAD Polymorfisme also, but has no symptomes, exept a lot of thirst and a suspicion of muscle hypotonia and hypoglycamic episodes. As a child i olso suffered from hypoglemic episodes and epilepsy. My questions: what's the difference between SCAD and SCAD polymorfisme, and Adult Onset SCAD?? View Answer |
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2006-09-03 |
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I am a 30 year old woman and mother of one healthy 8 year old son and pregnant with number 2. I was dignosed with propionicacidema in about 1978. I was in and out of the hospital four years before Dr. Juilan Williams decided what to call this. As far I as know I was the oldest in the world that had this. My question is have you heard of anyone older that me with Propionicacidema? I am Biotin responsive and that is the only reason I am alive and doing well today. View Answer |
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2006-08-31 |
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My child has Galactatose-1-phosphate uridyltransferase can you explain to me in lamens terms how she may have inherited this and what autosomal recessive pattern is all about?
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2006-08-30 |
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I was wondering if you had to go in for surgery and you have Ornithine Transcarbamylase Def. would that cause the condition to become worse? Would it effect the condition in any way, the surgery for the patinent would be on their hand.
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2006-08-24 |
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I am a 25 y/o female w/ a severe rxn to aspartame. The FDA insists that the only reason this could be is PKU. It is unknown if the Guthrie test was performed at birth, the results likely disregarded by my mother. I have other issues, nothing ea. but add up to a lot of frustration. I have trouble controlling body temp, indigestion easily, intelligence has decreased, eyes are bad (runs in family), bad knees (on Mobic), twinges in joints, lung and pulse issues. Could PKU or a BH4 deficiency be the cause? How do I ensure tests are done? Looking for resolution- what if I get pregnant? View Answer |
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2006-08-22 |
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I have symptoms related to TMAU. I was diagnosed as negative by Dr. Preti in 1998, however I would like to be retested. Do you have any resources at Emory that can help me get an accurrate reading.I recently joined one of your nutritional programs to help with my weight issues and nutritional values but am still concerned with TMAU symptoms.I would also like to refer Emory as a testing facility for other members of the TMAU Foundation. View Answer |
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2006-08-15 |
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Can there be a form of PKU so mild that it does not manifest until teenage years even without proper diet? View Answer |
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2006-08-09 |
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I have 3 kids with CPTII. How/what do they need to do so they can play sports such as track, football which they enjoy playing? View Answer |
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2006-08-06 |
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My friend has had a child who was tested and the results were positive for "Triple H" Syndrome. We are unable to find resources and was wondering if you knew the medical term or another name for this syndrome. I am also a teacher who works with children who have special needs and have not heard of this syndrome and would like to be educated in this rare disorder. View Answer |
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2006-08-04 |
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My 14 month old daughter was diagnosed with Congenital Hypothyroidism in the newborn screening. Now that she is over one year old, how often should she be getting her blood drawn to check the T-4 and TSH levels? And should she have had a scan of her tyroid? View Answer |
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2006-08-01 |
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My daughter age 15 was born w/ tyrosinemia lll, treated w/ vit.C, vit.K, iron & transf. of plateletts. Formula - progestamil. Her body chemistry was fine by age 1. Diagnosed w/ autism at age 3. My son age 10, same story. Tyrosinemia lll, then diag. of autism. They have had no diet restrictions, should they? There is so little info. about Tyrosinemia, and what I've read lately has me confused. Physically they appear fine, but do they need diet restrictions? Would this help them neurologically? Any suggestions would be greatly appreciated. Thanks View Answer |
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2006-07-21 |
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I HAVE been diagnosed with carnitine deficiency and im 34 i was getting really weak muscles and passing out. also i was very tired all the time. the doctors have me on carnitor for about 2 years now which helped alot. i want to know...i have been getting real tired again fatigued, my eye sight isnt very good is this the musle weakness? and will it ever go away? is this from the medication? most infants get this and mine wasnt triggered until i was 34. why is that? please help me if you can.thanks. no one in my family has this, i dont understand how i got it. View Answer |
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2006-07-18 |
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Hi there,My son is 10 years old and was diagnosed with homocystinuria when he was 6 years old following progressive eyesight deterioration. He is currently taking Amino Acid Supplement (HCU Gel), Folic Acid, Asprin and Betaine as well as following a low protein diet. I was wondering if those affected in the US follow a similar pattern with diet and medication and also what their average life span is.
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2006-07-14 |
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Hi, my daughter, who turns 4 next month, was diagnosed with hyperlysinemia a year ago, when she was hospitalized with epileptic seizures (mynoclinc, atonic); these seizures are now under control with daily medication. She is extremely delayed in her speech, has maximum two-word sentences, isn't toilet-trained, and is uncoordinated (can walk fast but cannot run or jump). For the past year, she's been on a low-protein diet (by our geneticist), which has brought her lysine levels from 6x the normal limit to just twice the limit. Her /my blood relative has epilepsy but is independent; I don't see the same future for my daughter. Everything I've read links this disease to mental retardation, though nobody has said this about her; her teachers and doctors just remain hopeful that she'll improve--she has, but she's still functioning like someone half her age, or less. What can I realistically expect for her? What's the latest on this disease? Thanks in advance for your help. View Answer |
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2006-07-12 |
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I am in a family of 4 kids, and my parents have been told that they are carriers of pku i am the eldest and iam not a carrier, but my baby sister does have pku, the 2nd and 3rd child have been told they are carriers, is that possible?
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2006-07-08 |
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I was diagnosed with primary hyperoxaluria as a child and started to receive dialysis at the age of 12. I received a kidney and liver transplant from cadaver in 1993. All has been well until now except minor problems. My question is regarding pregnancy. What are the chances of transmitting this disease to my baby if my husband is healthy? Is it possible to find out whether the baby is healthy during pregnancy, if so at what stage and if the baby is transmitted with the disease, what are the options for treatment?
Thank you for your help. View Answer |
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2006-07-04 |
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My patient's father has a blood clotting disorder related to homocystinuria. My patient is completely healthy. What testing is recommended for him? View Answer |
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2006-07-02 |
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My daughter is the mother to two children, a 3 year old boy and a 11 day old daughter. Both children are MCAD positive. If both parents are carriers(they have not been tested) then it is my understanding that there was only a 25% chance for their children to have MCAD. Does both children testing positive mean that one of them must have MCAD rather than just being a carrier. Should my other children be tested before they have children View Answer |
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2006-06-27 |
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my daughter has a diagnosis of carnitine deficiency and i need to know if one or both parents must also have that diagnosis. View Answer |
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2006-06-22 |
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I have an 11 year old daughter and within the last week everyone is noticing a STRONG maple syrup smell coming from her whole body. I have read many books and do recall reading some on this disorder, but unfortunately I don't know what book I read it in. Even after a shower you can still smell maple syrup seeping through her pores. Do you happen to have any knowledge of this disorder...whether it is genetic or a chemical imbalance? Thanks View Answer |
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2006-06-11 |
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If DNA analysis has diagnosed an infant (< 3 months) to have a mild case of VLCAD what are the risks of maintaining a diet of just breast milk? Is there a difference between a mild form and adult onset versions of VLCAD? Presuably infants with mild forms would never show adverse affects of VLCAD until adolescence so why restrict or change a diet? View Answer |
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2006-06-10 |
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My girlfriend was diagnoised with Maple Syrup Urine Disease as an infant. She's now 16 and suffers from regular stomach pain. She doesn't see any specialist about her condition now. But as this pain continues I'm wondering is MSUD a continuing disease that needs assessing throughout her life or something that should only be of concern to infants and young children alike. She has lost alot of hope and trust in her doctors now, as they haven't been able to find the cause of her pain. And with regular blood tests being lost before being sent for analyst, is isn't a wonder why. My question to you is, should she still be careful on what she's eating and such? And what help can she or should she be getting for Maple Syrup Urine Disease? View Answer |
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2006-06-06 |
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Has any research been done on the long-term effects of Duarte galactosemia (DG) on a child who continues to be breastfed? Is it always recommended that soy be given, or does it seem to make a difference in the long run? Does anyone really know, or is it a "better safe than sorry" situation? My granddaughter is thriving on breastmilk and only has problems when fed soy...does an elevated number of galactose (14.2) predict future problems? View Answer |
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2006-06-04 |
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should my child take a part of the gene therapy if they suffer from maple syrup urine? View Answer |
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2006-05-31 |
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My son is currently being tested for glutaric acidemia. His first urine test came back with elevated leves of glutaric acid. He has a second test that is currently being processed.I have two questions -Since this is genetic is it possible for my son to have this when no one in either my husbands or my family has ever had this?
-How likely is it that one test would come back with elevated levels and the second would come back normal?Thank you View Answer |
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2006-05-20 |
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I had a child with GA2 in Dec. of '95 who passed away at 11 days old. I never recieved much info on this disease and sill feel kinda lost with it. I have since had 2 additional children, which have been healthy until this past January. My oldest daughter which is 8 keeps getting a UTI. Is there a connection with Kidney's and GA type 1or 2? I haven't really thought much about this until now and we are on our 3rd VERY severe Kidney infection since January. Can you please help? View Answer |
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2006-05-17 |
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I'm a high school biology student, studying PKU for a genetics project and would like to know... If a woman already has a child with PKU, what are the chances of the 2nd child having it as well? View Answer |
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2006-05-13 |
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I've never been tested for it, but I am 100% sure I have Hereditary Fructose Intolerance (HFI). Myself and my sister have lived with this for 35+years and is not a major problem, but would like to learn more about it. From what I understand, HFI is carried as a recessive trait and extremely rare. We're missing the aldolase-b enzyme (I think). There is some information on the internet from a couple of schools studying the condition and a yahoo group for people with this, but I was wondering if Emory has anyone interested in or studying this genetic condition? Or can your department administer a test for HFI? Thank you. View Answer |
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2006-05-09 |
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I am father of a young woman, 23 years old, that has classic galactosemia. All this years she has a controled diet, but, on all this time she carries a cronic anemia. By four iears now, she has white blood count that is instable ( 3800-4000 leucocits ) but slowly decreasing and now, the count is in 3100 leucocits. She is a wealthy woman, without any syntoms by all this years. She had catarats, operated, and has ovarian atrophy. I would like to no if controled galactosemia could be the cause of the altered blood count, or if a have to think in other haematopoietic condition. View Answer |
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2006-05-06 |
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I am the teacher of a 12-year old male that has nephropathic cystinosis. Ten months ago he had a kidney transplant and is on 23 medications. Retina surgery will be scheduled within the next eight months. I have been tutoring him one-on-one for the entire school year. Academically this student is at a second grade level. He's able to understand basic math and reading concepts, but unable to retain them for more than two weeks. Will he ever be able to function at grade level? Is this normal for cystinosis? What are your recommendations to help him? How does it affect the brain and learning? View Answer |
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2006-05-04 |
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I need a picture of the gene associated with pku. I need exons and introns on a line drawing. View Answer |
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2006-04-23 |
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My grandchild has been found to have one of the genes for Galactosemia. While waiting for final test results, she was on soy formula. Now she is back on breast milk and seems to be having more digestive problems. (Gas, crying etc) Can having one of the genes still affect her tolerance for milk? I haven't been able to find information on this. We have been told she should be perfectly normal. Is that true? Thank you!!! View Answer |
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2006-04-12 |
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For people affected by G6PDD what are their survival rates? Do they have mean years of life or are they functioning normally until they ingest something that causes hemolytic reaction? If so, how long does a person survive after hemolytic attack that is not treated? View Answer |
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2006-04-11 |
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My wife and I had a normal healthy pregnancy and a c-section delivery of a baby boy on April 28, 2005. Within 24 hours our situation took a turn for the worst. My son died on April 30, 2005. After an autopsy and almost a year of post mortem genetic testing he was found to have had CACT carnitine acyl-carnitine translocase deficiency.
My wife is now pregnant with twins 6.5 weeks. We are concerned because our genetecist told us that this disorder is treatable. Should one or both of our kids have it. We were planning on doing in vitro fertilization and PGD testing but the pregnancy was not intentional. So we will do CVS testing at ten weeks and possibly amniocenticis at 14 weeks. This will tell us whether both, one or neither have the disorder. Should one or more have the disorder, what is the progress in treatment of CACT? I don't have the access that I'd like to the most current research regarding treatment of CACT. Is their current research out there telling me the short and long term effects of treatment? My wife and I will have to make a decision regarding these kids? Do they have a strong chance of survival? View Answer |
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2006-04-02 |
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I am a student at a New York College. Presently I am working on a class assignment, on MSUD. My reason for contacting you is this... I need information on how the genetic aspect of this metabolic disease work. For example, I need to know where or at what point the DNA mis translation occurs. Is it during transcription or translation?, and how it results in a gene mutation; that results in this disease.
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2006-03-29 |
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Two months ago my daughter gave birth to a baby (boy) who is diagnosed with Type I Tyrosinemia. What she must do to
avoid such fate for the next time. She is fat (85kg), used to smoke, and take a medicine called Spasmindon (for stomach pain) for kicks and this habit led to constipation. All are OK now, except she is still fat.
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2006-03-17 |
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hey i am doing a project on Galactosemia and i waas wondering if you could help me out and tell me what is the most race/ethnic group affected? View Answer |
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2006-03-15 |
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Hello!
I am a 26 year old woman expecting my first child in August 2006. My husband's sister recently had a child who was born with a biotin deficiency. I am wondering when and how testing would occur to see if our child will also have a biotin deficiency. Is this a test that needs to be done prior to the baby's birth? Do I need to be tested or just the baby? Also, who performs the test?
Thank you for your assistance!
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2006-03-13 |
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Is there any connection with children that have had a L-Carnitine deficiency in infancy and ADD? Where do I find more info? Are there any studies that you have ran across that will be helpful? View Answer |
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2006-03-09 |
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My 31 month old son has been diagnosed with an oxidative metabolism disorder. He has been in a low fat (28-30%),casein free an d gluten free diet for almost 2 months and the results are astonishing. He has been taking occupatinal therapy for almost a year now with grat improvement. But he still has a severe speech delay. He doesn't say one word with meaning, just cuus and gaags. What should I do? Should I start speech therapy? Is He ready?Should I consider sensory integration therapy? I would like more information about oxidative metabolism disorder. What should I expect? and any other recomendation that might help. Please Help... View Answer |
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2006-03-03 |
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Is MSUD only found in newborns? My son is 2yrs old and quite often has a strong maple syrup smell in his urine. He has no other symptoms and has always been fine with the exception of the smell. Could this possibly be something else? Should I still have this checked out with my dr? View Answer |
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2006-03-01 |
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I have the symptom of Trimethylamineuria - the fishy body odor - and have ruled out other causes (gyno., etc.). My question: What can someone with the disorder DO about it? Is medication available to prevent symptoms? I am desperate, as this disorder is preventing me from having a normal, socially active life. View Answer |
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2006-02-28 |
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What is the age of the oldest survivor of Methylmalonic aciduria? View Answer |
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2006-02-24 |
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Hello, My 16 yo son went to the school nurse because teachers and friends said he looked "blue". His o2 sat was 100% and his pulse was 120. His hands were ice cold however he said he didnt feel cold at all. I took him to his PCP that day. His PCP was puzzeled. Sent him for labs. Metabolic profile, CBC w/diff, sed rate and Methemoglobin. All normal results. The "blue" color comes and goes now. It isnt a constant thing. We have an appt with Pedi Cardilogist next week. Does this sound like it could be Methemogloblinemia? Are these sx's consistant with that? Or just some freak thing? Thank you for you time. View Answer |
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2006-02-21 |
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My question is concerning Isovaleric Acidemia. I would like to know if it is possible for an adult to have this condition with minimal symptoms. I was never diagnosed as having this disease as a child but one of the distinctive symptoms of it is very similar to that which I have experienced. From adolescence on up to adulthood I have had a abnormal "sweaty sock" or "sweaty feet" odor (mainly when I sweat), I always thought it was my shoes or feet but that when I realized it was actually coming from my pores. I had read that certain body odors could be caused by the body's metabolism and inability to break down certain proteins. I have done my own research on this for the past couple of years and the only condition remotely relative to this that I found was Isovaleric Acidemia. The only other symptom that I've had would be lack of energy which could be attributed to my being anemic. That said, is it possible that I could be a carrier of this gene/trait or have a much milder form of this disease and therefore have some similar issues with breaking down these same proteins that affect persons that have the full blown disease? Can adults be tested for this? If so, how would I go about getting tested?
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2006-02-17 |
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hello, i was wondering about how mutations in the glucose 6 phosphate dehydrogenase gene affect enzyme structure/ function? View Answer |
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2006-02-15 |
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2 questions on G6PD deficiency:
1. Where would I find the chemical pathways in detail for G6PD?
2. Are there any emperical studies on implementing specific nutrition such as iron, antioxidants to help increase the length of life of RBC's, increase production of RBC's, or symptomatic improvement of any sort in a person with G6PD deficiency? View Answer |
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2006-02-14 |
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Can 21 hydroxilase deficiency (salt wasting type) cause exertional tachycardia and dyspnea in a 9 year old child who supposedly is getting the appropriate treatment? And what is the recommended treatment for such? View Answer |
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2006-02-10 |
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What are the treatments for Maple Syrup Urine Disease?
What are the limitations of having Maple Syrup Urine Disease?
What are the accommodations needed to live with Maple Syrup Urine Disease? View Answer |
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2006-02-08 |
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i have an 11 years old daughter with MMA MUT 0. We found it out when she was 7,5 months old. Now she is following a low protein diet , she also get carnitine,flagyl,filice. Last year she started to get sodium bicarbonate and EPREX injections. I wonder how far are the serches for gene therapy for the MMA ? View Answer |
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2006-02-03 |
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I was test on methymalonic acid range was 90-279
it came in at 72
also my b12 level was below normal.
my dr doesnt understand as all of her other parents with low b12 have high methymalonic acid.
what can this indicate.
can this be acidemia methymalonic,
i am 50 yrs old. View Answer |
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2006-01-31 |
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I am 42 years old and have noticed a burnt sugar/maple syrup smell to my urine. I have noticed this on an off for many years. Is it possible this is MSUD?
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2005-10-22 |
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I was born without a thyroid gland, and went without the hormone for my first 3 months of life. In the last 11 years (I am now 41), I have become quite physically disabled, and somewhat cognitively impaired. A doctor just mentioned the other day that I may have a metabolic disease, as my muscles have progressively weakened. I am in a wheelchair, and have been for a decade now. I can't seem to find anything on the sequelae of not having a thyroid and living on synthetic hormones. It has been very difficult to get the diagnostics on my situation because I am very poor, though I have insurance through Medicare/Medicaid. I am getting worse lately. This doc that mentioned the metabolic disease may well have something here, and it is my first glimmer of hope in a long while. Do you have any information on metabolic diseases that heavily involve muscles and may be related to the thyroid? Do I have any hope of getting better? From what I can see, Cushing's is the most likely of the metabolic disorders, given my hairy chin and neck, and PCOS, no more periods, etc. I am just trying to find threads to hang onto.
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2005-10-07 |
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Are there any dietary treatments for "SCAD"? View Answer |
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2005-09-14 |
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Does Zellweger Syndrome affect children of a specific gender, ethnicity, or country, and is there research being done on courses of treatment? View Answer |
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2005-09-14 |
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I had AFLP in Nov. of 2002. My 16 mo. old son seems healthy, but his physical milestones have been a little delayed (not walking yet). I was tested for what I was told was "LCHAD defect" and it came back negative. Should I have my son tested for LCHAD deficiency? What are the health implications for him? View Answer |
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2005-09-14 |
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I have a patient with Classic MSUD. I want to know about molecular diagnosis in the index case and carrier testing in parents (where is it possible)? View Answer |
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2005-09-14 |
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