Lysosomal Storage Diseases | Ask the Geneticist (SM)

Q&A about inherited disorders that result from a defect in lysosomal function. The Lysosomal Storage Diseases (LSDs) are a group of conditions in which certain substances or substrates build up in compartments of the body's cells called lysosomes. Lysosomes contain enzymes that allow cells to digest and recycle the body's substrates or macromolecules. LSDs are caused by missing or poorly functioning enzymes that are unable to perform their normal activities. Over time, excessive amounts of the substrates accumulate and cause damage to the involved systems and organs in the body. There are over 40 LSDs. Examples include Tay Sachs and Gaucher disease.

Other information about lysosomal storage diseases:

-Genzyme Lysosomal Learning

http://www.lysosomallearning.com/home/default.asp

-Genetics Home Reference

http://ghr.nlm.nih.gov/search?query=lysosomal

Subtopics

Canavan Disease (1) Fabry (16) Gaucher Disease (12) Krabbe disease (6) Metachromatic Leukodystrophy (5) Miscellaneous/Unclear Diagnosis (5) Mucolipidosis (3) Mucopolysaccharidoses (MPS) (4) Niemann-Pick disease (3) Pompe Disease (4) Sandhoff disease (3) Tay Sachs (18) No Sub-topic (0) Showing 80 questions

Displaying: All questions - use the list above to filter results.


	Question		Date



	We recently learned that my husband is a carrier for Gaucher disease. Although the disease is usually described as autosomal recessive, I have also read that carriers can have intermediate enzyme levels. My husband's cholesterol and liver enzyme readings shoot through the roof if he is not careful about his diet. Could there be any connection? View Answer


	Carriers of Gaucher's disease often have intermediate levels of beta-glucosidase, the enzyme that is deficient in people that have the disease. What symptoms would that cause in a carrier; ie depression, or muscle weakness,etc. ? View Answer		2009-10-28


	My husband is a carrier for Gauchers disease, but I am not. If my children are also carriers(I don't know if they are yet) is it possible that they could develop symptoms of the disease? View Answer		2009-10-27


	What is the mortality rate of Canavan Disease? View Answer		2009-10-22


	Doctor, My 29 year old son is diagnosed with thought-disordered schizophrenia. He also has hand tremors, enlarged liver and spleen, distended abdomen, scoliosis, calf cramps, and some blood abnormalities. His hepatologist ruled out cirrhosis or hepatic encephalopathy and thinks that something else is causing the organs to be affected. He has occasional bowel incontinence (2-3 times/yr.) His symptoms seem to slowly and steadily worsening over time. I have begun to wonder if he could have a genetic disorder such as Metachromatic Leukodystrophy. Please advise. I'd really like to find out what we're up against. View Answer		2009-10-21


	Hello, I am a 37 year old female, and my alpha Galactosidase A enzyme level was recently tested based on my Nurse Practitioner's suspicion of symptoms. No other known family member has been diagnosed with Fabry's Disease. My results - a-GALACTOSIDASE 23 [range 35 - 85] a-GALACTOSIDASE A 15 [range 25 - 80] a-Gala/B Gala 0.18 a-Gala A/B Gala 0.12 The Geneticist says it is probable I do not have Fabry's because although my levels are low, they are higher than most carriers, BUT also recommend genetic testing for mutations. This seems like a total contradiction. So, my question is, based on these results does further testing in fact seem warranted? Thank you! View Answer		2009-09-05


	I read at the mayo clinic website on Krabbe that carriers (one copy) of the gene for krabbe never have symptoms, but during my research I read a paper published in the Journal of Neurology, and Psyciatry (1991;54:293-296) that states " The heterogeneity of the clinical presentation and the investigational profile of the late on-set form of Krabbe's leulodystrophy is becoming more apparent". does this mean that late on-set Krabbe disease can be caused by having only one affected copy of the gene? Does it matter how many mutations are seen on that gene, 1 or many? How will we determine the fate of our children if some carriers are affected and some not. Is there anymore headway being made in this area? View Answer		2009-08-16


	my son age 26 was diagnosed with Fabry's Disease earlier this year.He has not started the enzyme replacement treatments as of yet. he suddenly lost the hearing in both ears this month. the doctors believe it is because of the fabry's. he is a candidate for cochlear implants, which we are considering doing. before he has this done, his genitic doctor at the mayo clinic in mn thinks that if he gets the enzyme replacement treatments, there is a chance it could reverse the hearing loss, but it really is an unknown to them. do you have any information to give me about anybody out there that is dealing with this type of condition and any results if the treatment has worked to bring back the hearing in anybody, or do you feel the hearing is permanently gone View Answer		2009-08-08


	My brother was married to his second wife and they had two sons. His second wife's sister had a baby and was not married so my oldest brother and his wife adopted her. That was 27 years ago. Within the last few months that adopted child my niece was digonosited with PomPae and just a few days ago she had a heart attack and is now at IU Medical Center in Indianapolis, IN and they dont know if she will make it or not. My question is should my nephews and there children be checked for this missing gene since there mothers sister had this missing gene. View Answer		2009-08-02


	Hallo dear Geneticist I have a Jewish couple as patients. Their son living in either Denmark or Australia ( they have 2 sons, one lives in D the other in Aust) had recently been noted to have an enlarged spleen, and the long and the short of it is they want for me to requests genetic tests on them to confirm or not that the son may possibly have Gaucher's disease. (Their other son according to the father have Tay Sachs. It sound like they are collecting Jewish diseases. ) The son in question, being unwell, had requested this testing but when I read up on it it did not appear to me that the mother and father being tested will yield very much info concerning their son's risk. These people are not well to do and I do not want to waste their money since they are well enough for their age . ( Early seventies both ). Please provide me with the common sense answer that I need ? View Answer		2009-07-13


	can dystonia and niemann-pick disease be related? View Answer		2009-05-21


	I had posted a question earlier no. 5951. meanwhile i got the answer to that. Please let me know the average progression of MLII, depending on the details given by me under the previous question. tx I had found good info on the disease at mpssociety.org View Answer		2009-04-04


	one child of my family was dead and the diagnosis is pompe's diseas , it is the 1st case within my family(very extended), i want to ask in this this case is absolutely both parents has recessive gene( gpp) or may be was environmental factor which cause the disease. and we don't have here geneticists to make sure that the parents are carrier of the disease how u could help us in this? View Answer		2009-03-21


	We are researching Tay sachs in our Moulecular Biology class in Chadron State College, I was just wondering if there was a way to diagnosis this while it is still a fetus and if there was a cure, or anything they could do at that level? Also how would you diagnosis it at that level, such as western blot, southern blot, or what form of assay? Thank you for your time, View Answer		2009-03-18


	My child was born on 23 Oct. 2008 with 2410 grams. He was OK within fifteen days after birth but after that his convulsions have started. We have visited many neurologist and eventually visited a metabolic diseases unit in Turkey. The metabolism doctors is strongly suspecting I-cell disease. We have sent urine and blood sample to UK for investigation. Our metabolism unit doctors are telling that there is a small chance for bone marrow transplantation in order to get rid of this disease. For the time being we are investigating the whole body system including eyes, ears, heart, liver and other organs before the transplanatation. I am wondering if he has a chance with transplantation (any mortality or survival rate in the world for this disease) and in what conditions we should think about the transplantation. (Ex: If he will got deaf/blind or liver is in bad condition, do you recommend bone marrow transplantation?) Is there any treatment in the world other than transplantation? View Answer		2009-03-11


	My granddaughter was diagnosed with Pompe disease at 6 months old, she is now 10 months old and receiving enzyme replacement therapy. I was watching a program on South American culture a while back and it was talking about Coca leaves that the natives chew. It went on to tell that chewing the Coca leaves does not give any narcotic effect but it does introduce an enzyme to help the body break down sugars. I was wondering if there has been any research with Coca leaves as a form of treatment for Pompe disease. View Answer		2009-03-07


	My 2nd cousin has been diagnosed with this disease for 1yr or so already (MACSTEAM.ORG). My question is Could my children who are his 3rd cousin carry this disease seeing that it is hereditary. No one else in the family over generations has this disease why him? View Answer		2008-11-17


	I teach therapeutic riding. I have a student age 4 1/2 with metachromatic seukodrystrophy. In the info that I've read most of these children die around 5 years of age. What exactly is the cause of death? Does the brain just stop functioning because of the nerve damage? Please help. View Answer		2008-10-28


	My daughter is almost 3 months old. Immediately after birth, she had very low platelets (31,000 at birth, down to 6,000 on day 2) and an enlarged spleen. She has since also developed an enlarged liver and slight anemia. Bloodwork has been done since, and nothing has been revealing - except a slightly high GGT and a slightly abnornal AST and ALT as well as 0.1 higher than normal on her neonatal lupus screen. She has always acted like a healthy baby girl with no other symptoms. She was 6 lb 11 oz at birth, and at 2-1/2 months, she weighs 11 lb 3 oz and has grown 3 inches. We got the results of her DNA test for Gaucher's disease (since I am of Ashkenazi descent). Per the hematologist, "She carries only 1 gene mutation. It is not clear that this is enough for her to have disease. " My question to you is...is it possible to have Gaucher's disease with only one gene mutation? Are there any other conditions that have the same symptoms as Gaucher's that we can look at? View Answer		2008-10-22


	My daughter, with an Ashkenazi background, was tested to see if she was a carrier of the Tay Sachs gene, and she is. She is married to a non-Jew who is also not a member of any other groups with high incidence of Tay Sachs. I was married to a non-Jew who is also not a member of other groups with high incidence of Tay Sachs. Does this mean I am a carrier? My parents were both Jewish, with Russian, Hungarian, and nearby countries background. They had two daughters, neither had Tay Sachs and a son who died in 1952 at 2 1/2 months. He had harelip/cleft palate and had already had one surgery for it. His death was diagnosed as SIDS. Is there any way he might have had Tay Sachs rather than SIDS? Thank you. View Answer		2008-10-02


	Dear Sir, If some one is trying to treat aTay-Sach diseases baby how can we monitor and prognose the condition. Is there any way to assess the GM2 Ganglioside level or its deposit quantity or something like that. Also is there any other way by which we can know if the disease is doing a decline? Please assist. View Answer		2008-09-01


	could you please give me some idea of what signs, sympoms, etc to look for or be aware of that would indicate the last stages of sandhoff disease prior to death of the child i am inquiring about? View Answer		2008-08-26


	My daughter and son in law are expecting their first child and the doctor has just given them an order to be tested for tay sachs . I am concerned with the lateness of this test since she is just about 12 weeks. I know that in order for tay sachs to be passed on to the baby, both parents must have the gene and that it is more common in the Ashkenazi Jewish population . Neither my husband or I tested positive for the gene when we were screened in 1979, so I would assume that our daughter would not have it either. Is this a correct assumption? View Answer		2008-07-06


	How did Niemann-Pick get its name? Was it anmed after the doctor that discovered it? Was it namedafter a patient or family of patients that had it? View Answer		2008-06-08


	Is it possible to have Gaucher's disease without both parents carrying the gene? Also, can you have it without having anemia and low platelets? View Answer		2008-06-05


	we have tay sachs in our family tree; my son and daughter have been tested positive for Tay Sachs. question: did both of my parents carry the gene? did my husband also carry the gene for my children to become carriers? View Answer		2008-06-03


	my daughter is going throught the process of diagnosis of potentailly having fabrys disease, my question is if it is conclussive that she is a carrier would artificial insemenacian stop the passing of this disorder when the time comes for her to havce children? one more, is it true that my daughter recieved this from me or is it possible that she could be the first one to start this trait? View Answer		2008-05-17


	My child was picked up on the NY Newborn Screening Test for Krabbe. We have been told that he is at 'low risk for developing Krabbe' and carries a late onset mutation (so although he does not have Krabbe, he will be monitored.) His enzyme level was measured at 0.4. My question: my son does not have two mutations, but rather a mutation and a variation. First, I thought that it would not be possible to develop Krabbe if he did not have 2 mutations, but maybe I am wrong? Is it possible to develop Krabbe with a mutation/variation combination if that unusal combination produces a low enough enzyme level? Also, what would trigger a 'low risk' individual to eventually develop Krabbe? In other words, what does 'low risk' mean in the scientific world? THANK YOU for your help!!! (the following study seems to describe a similar situation? adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.) View Answer		2008-04-21


	My husband and I are both Askenazi Jews. I am 11 weeks pregnant and we recently took a 12 panel genetic test. We both came back as being carriers of Tay-Sachs but with different mutations. Without knowing the specific mutations, could you tell me what the chance of having cross reactivity with these mutations. I was told by my doctor that having different tay-sachs mutations should lower or even eliminate the risk of having a baby with Tay Sachs- We will be doing an amnio in four weeks. View Answer		2008-04-15


	My husband and I have finally recieved information on our carrier genes. Mine is an insertion and His is a deletion of the MPS111B mutation. I am a bit confused as to how this works. How does my son have the disease if we have different mutations. He has never had a skin Biopsy only Blood & Urine. I also am interested in knowing if their are Milder cases of MPS111B. Our GT feels that my sons features are very mild although he still has no speech ( he is now 3yrs). Are there any known cases similar to ours? Any answers would be greatly appreciated. THANK YOU! View Answer		2008-04-13


	with having fabry's what is the affect of hypertyroid and fabry's. does fabry stop the absorption of the thyroid medicine? does fabry with havinf the fabrazyme cause the thyroid not to work? with being infused and having the thyroid problem put my husband in the ER with a deep sedation that not matter what the doctors did could not wake him out of the stae mhe was in. ct scan,mri,blood test,x rays showed nothing and the sinal tap also did not show anything for the pain in the belly and chest the low blood pressure or the symptoms of sezure activity but no sezure activity was found. please help me with what FABYS has to do with what the fabrazyme affected with the thyroid. i have been trying and got few answers but was told mostly that fabrys could have affected and caused the thyroid medicine not to be absorded in the system. View Answer		2008-03-08


	Are there any commom GYN problems affecting Fabrys' carriers, who also exhibit symptoms of the disease. Are there any bleeding disorders associated with Fabrys, in particular increased bleeding as opposed to clotting disorders. View Answer		2008-02-16


	Dear Mr.Geneticist: If someone has gaucher's disease, what is the outcome and how long will some one have the disease?? View Answer		2008-01-31


	Dear Sirs,I was told I have Lysosomal Storage Disease (thorax), I have no idea what is Thorax? I can't find it on the Lysosomal website. Can you give me an idea, or what website I can check.Thank you. View Answer		2008-01-29


	I'm 40, female, with seeming angiokeratoma corporis diffusim -first found on thighs at 18 yrs. Spread up across my abdomen, fewer on chest, proliferating, diffuse with areas of density like buckshot pattern. Had epilepsy from age 13 to 29, now gone due to removal of dental amalgams (taken no meds and no seizures for 10 yrs). Have life-long lack of sweat, intolerance to heat or hard exercize (which cause intense headaches). Subclinical hypothyroid since youth. Severe hypoglycemia as child and teenager, bad "growing pains" in toes as a child (5-8). 25 year history of bad menstrual problems, with pain, irregular cycles, heavy bleeding, miscarriage, and infertility. High estrogen and inability to absorb or use progesterone. My 43 yr brother has chronic protein in urine, low sweat output, chronic high blood pressure since teens. Is it worth it to seek testing for Fabry disease, or some other lysosomal storage disease, or any other genetic syndrome that these symptoms might indicate? View Answer		2008-01-08


	My son (8months) is diagnoised as Hex A & B deffiecient (sandhoff). He has severe vision impairement from birth. He can roll over but can not crawl as of now. As I read in the net, there is no treatment for this disease. I would like know if there are any cases which are treated. View Answer		2008-01-07


	What are the Basic treatments for Fabry's Disease, if there are any? View Answer		2007-12-18


	I am doing a research project on Leukodystrophy and I am having trouble finding information on some of the history of the different type of leukodystrophies and some of the research milestones for this condition. Would you be able to provide me with some information or direction to find some information. Thank you very much. View Answer		2007-12-02


	I am a 45 year old woman with a history of leg/foot/hand pain & swelling since childhood - also have digestive problems/headaches, controlled somewhat through diet & digestive enzymes. Testing for lupus, celiac disease, etc. (over 25 yrs.) has been negative, so I've simply had to cope. I take a diuretic (hypertension), & antihistamines - no other meds. My concerns are 2: my symptoms have worsened over time, & a nephew has similar symptoms. I recently searched the web re. the above, & Fabry was often mentioned. I realize this is a rare disorder, & that women are less likely to be symptomatic. I would therefore hesitate to discuss this with a doctor, lest it appear off-base. An additional symptom of Fabry is angiokeratomas. I have looked at photos, & do appear to have these, but only 10 or so (red, raised spots on my chest/stomach). Are these common - & therefore not significant? Could you please let me know if it would be reasonable to look at the possibility of Fabry, or not? View Answer		2007-11-16


	What research is going on today about Tay- Sachs disease? View Answer		2007-11-05


	My husband has acid maltese deficiency. my two sons do not have it as I am not a carrier. my oldest son ' wife is expecting their first child. What are the chances of this child having acid maltese deficiency. we were told that the chances of our sons marrying women who carry a copy of this gene is "1 in a million" by geneticists at the time of my husband diagnosis. should we be worried? View Answer		2007-09-03


	I have a Patient withType 1 Gaucher disease. He has been receiving replacement therapy for many yeras with excellent results. He leads a totally normal life. He has been dating an ashkenazy girl for a long time and is now thinking about marriage. If she tests negatively to Gaucher can they be 100% certain that their children will not get it? View Answer		2007-07-27


	I am not sure, but I am thinking my son may have Gaucher's disease. He was born 5 weeks early, he is just turning 4 months old this week. I heard that people with this have a brownish tint to their skin, my son has always looked quite brown... people always say he looks a bit aboriginal. My other three children are white. My husband is mainly German, and I am not too sure of my ancestry. Since he was about 4 weeks old he has had strange bowel movements, green, foamy and mucusy. A few days ago his voice changed, his cry is very raspy. He is waking at night now and does not nurse as contently as he used to. He was born with a quarter size birth mark on his shoulder, it is flat and red, you can see little blood vessels in it, like a small tree. A month ago he had bronchiolitis. please tell me what you think. View Answer		2007-07-12


	My 38 year old son was diagnosed with Fabry's about 3 years ago and is now having ERT treatments twice a month. My 41 year old daughter and myself had the cheek swab done and a 35 year old son had blood work done all of which came back negative. My question is - should I get blood work done too even though my DNA cheek swab came back negative for Fabry's? I didn't know if that would be necessary or if the results would be the same. View Answer		2007-07-03


	My son who is just 2 yrs old has Hurler's Syndrome and has been receiving ERT for 10 months. The information we have collected all say that BMT should be done before age 2. My question is has the protcol been updated to include the use of ERT to slow the progress of the disease, or is the 2 year marker simply based off of data from before Aldurazyme was approved? View Answer		2007-06-20


	When wa tay-sachs disease discovered? How did it recieve its name? View Answer		2007-06-08


	I had the pre-pregnancy Jewish panel of genetic testing done. I did not test positive as a carrier for Tay Sachs disease, but my Tay Sachs test red-flagged that I may be positive as a carrier for Sandhoff disease. I had a subsequent genetic test done specifically for Sandhoff disease and, indeed, I am a carrier for this genetic condition.My question is: Would any test (type, brand, etc.) used to test for Tay Sachs disease red-flag one as a possible/likely carrier for Sandhoff disease, as my Tay Sachs disease test did for me? Or, can the detection of likely Sandhoff disease carrier status vary between different types or brands of Tay Sachs tests? View Answer		2007-04-13


	I have two boys with Gaucher's Disease on ERT. My husband and I are considering adopting a boy with Fabry;s disease but we need have more info related to ERT and Fabry's. Specifically, with early ERT is it likely to reverse or slow progression of the disease? Is it correct that most Fabry's patients don't receive ERT because there is a much higher likelihood of developing IGg antibodies? Our boys with Gaucher's have been getting ERT since they were 2 and 3 years old . . . We need to have some idea of the health expectations of raising a Fabry's child if ERT is an option. View Answer		2007-03-25


	Hi there, I am a 38 year old female with a history of Tay-Sachs in my family. I had a brother and a sister (both singleton births) who died of this disorder at between 2-2 1/2 years old. Although there isn't any documentation to prove that we are of Jewish heritage, we do know that a majority of family members were from the eastern to central Europe area. My question is about myself, however. I broke my right hip at age 36 from tripping over a box. No significant findings in the pathology reports, however there was scar tissue present, suggesting a lesion on the bone, and I had been having pain on and off for years in that leg. After 2 1/2 years, I am now presenting AVN in the left hip (the uninjured hip). Is it possible that I could have Gaucher's Type I? What is the likelyhood of a connection? Should I be tested? I accidentally came across information regarding Gaucher's while looking up AVN, and realized that it is of the same family of genetic disease as Tay Sachs, and seems I have quite a few of the symptoms. I am just seeking answers that I can't get from my current Osteopath. Thank you for you attention to my question. View Answer		2007-03-07


	Hi I am a student who is testing a patients fibroblast cells for Gaucher disease. All the symptoms point to Gaucher disease. I have tested the GBA gene, it is fine. So I ahve now tested the PSAP gene as I know this gene may be the cause. However, this gene has now come up fine too. Is there any other possible genes that could be the cause? View Answer		2007-02-28


	Hello. I am a 47 year old male Fabry Disease patient with a 11 year old daughter who is fully symptomatic with Fabry Disease. I am taking Fabrazyme and she is at the tail end of a Replagal trial at NIH. I was one of the first NIH phase II trial participants that began about 1999. I have been down a long road and learned a great deal. This is not about me though.My daughter does not seem to be benefitting from Replagal and I am about to pull her out of the trial and switch her to the Genzyme product. The most severe issue my daughter suffers from is severe anxiety and frightening panic attacks.Much of this probably results from classmates making fun of her for the high number of days abscent when the neuropathic pain flares up.The panic attacks and anxiety arose slowly over the last year and only now have become totally overwhelming for her and me. There is a direct relationship between school, homework, and exposure to her classmates. This is not a school avoidance case. She tries each and every day to get through this, but ends up with severe chest pains, neuropathic pain, and trouble breathing.I have been sending her to a medical psychologist who is very well respected and good. The problem is that this is really a vicious cycle between the physical pain of Fabry Disease and the psychlogical battle of fear and anxiety. I feel that only psychiatrists and/or psychologists that are trained and experienced with Fabry Patients can really get the honest feel of what my daughter goes thru each and everyday. Please if you have any suggestions of a well trained and experienced psychosocial professional that understands this disease, I would be eternally greatful if you would share the name with me. Geographic location is irrelevant. I will head to Antartica if required. View Answer		2007-02-21


	I'm doing a genetic disorder project in my 8th grade class, there is question that the paper asks and I haven't been able to find the answer. The question is Who discovered this disorder and when was it discovered? My disorder is Krabbes and I'am hoping that you will be able to help me with my question? View Answer		2007-01-11


	My 13 year old son suffers from frequent and often severe stomach pain and cramping. He then will have shooting pain in his hands, feet, arms and legs. He often gets dizzy and feels as though he is going to pass out. He does not have a rash on his hands but he doesn't seem to sweat all that much. Could he be a case of Fabry's disease? Noone can tell us what the problem is, and I don't know where to turn. Any help you can give would be appreciated. View Answer		2007-01-05


	is there now any treatment for gaucher disease type2 even as experiments for my daughter she is 7 years affected with gaucher disease type2 thanks alot View Answer		2006-12-04


	On May, my son, 5 years old, was diagnosed with Krabbe disease after the beginning of his blindness and on mid November he is not walking anymore. I need to know what?s the difference between the cord blood stem and the marrow bone transplant and if it?s really effective to stop the degeneration, and the statistics of death. It's very important for me to know the effectiveness of the transplant. Thank you very much and I will be waiting for a response as soon as possible. View Answer		2006-12-02


	How do factors like health, etc. affect expression of tay-sachs disease. What treatment is available for tay-sachs disease, How much does it cost? What research is currently being done, and what research will be done? Can the disease be detected before birth or tested for in parents? How? View Answer		2006-11-17


	I am female and have several symptoms of Fabry disease. Recently I was tested using alpha Gal A enzyme level measurement, dHPLC mutation scanning and direct sequencing of the Fabry gene. The results were normal. I realize these tests are quite accurate but I still wonder if I am that one in 50 that was missed. Question 1) Would a biopsy be a reasonable test to pursue or should I give up? Question 2) If it is true that I don't have Fabry's, I wonder what is causing the systemic problems I am dealing with. I have been treated by a cardiologist, neurologist, rheumatologist, ear doctor, pulmomologist, dermatologist, psychiatrist, podiatrist, physical therapist and urologist. They can identify various local diseases but no one has been able to identify a systemic disease. Do you think a geneticist would be of help? View Answer		2006-11-12


	I am a female carrier for Fabry's disease and have had some cardiac issues recently. I've been diagnosed with LVH cardiomyopathy. I also have a son who has Fabry's disease but is asymptomatic so far. Would it slow the progression of my LVH by going on Fabryzyme treatments? View Answer		2006-10-27


	Is Fabry's disase controlled by just 1 gene? View Answer		2006-10-07


	Is there any information out there on Metachromatic Leukodystrophy? Are there any studies being done? Is there testing that we can volunteer for? Is there any support groups or other families in the stae of Georgia with this condition? Is the a foundation here in Georgia raising funds to help research this disease, if so will you forward me the info, if not how do we start one? Please send me any and all info on this. My neice (now 31) was diagnosed 3 years ago and we want more info. Thank you for your time. View Answer		2006-10-05


	My sister had two children with the same krabbe condition with the same father. One passed at age 3, the other one is now 7. Both were diagnosed after 8-12 months of age and showed all active signs of the disease. She later had two other children with another father which show no signs of the disease. I am her sister. Can you provide me information regarding the 7 yr old since I read of the term of life expectancy and if there are any treatments after he has been 6 yrs active in signs. Also, for her other 2 children if they or their children as well as anyone else in our family including me could be affected. Finally, can I receive more information on the disease overall from how it occurs to treatments and centers of research, ect. Thank you very much. View Answer		2006-09-25


	Are there any studies available demonstrating that missing an infusion (or several infusions) of Fabrazyme will cause Fabry crisis? View Answer		2006-08-07


	If I am a carrier for Sandhoff disease, and my husband is a carrier for Tay-Sachs (we're both Ashkenazi Jews), are the two conditions similar enough to be a problem if we try to have children? View Answer		2006-07-23


	HI!My 11 yr. old son has been struggling with symptoms that doctor's can't figure out. Most tests come back normal. He is being treated for certain diseases, but the medications aren't working. He has been on many different medications. Symptoms that occur daily or several times per week are: severe fatigue, joint pain, chest pain, side/back pain, shortness of breath, tingling sensation in hands and feet (1 x week or so), abdominal pain after eating, and wheezing. He also experiences severe pain in side, occasional proteinuria and hematuria, weight loss, and skin rashes. He has been diagnosed with: JRA, asthma, GERD, Ig A nephropathy. We can't help but think we're missing the real problem. Three friends saw a program on Fabry disease and called independently to tell me about it. Is this something that should be considered? View Answer		2006-07-13


	I am a 38 yr old healthy female. I went to an eye dr. (had not been in 9 years) for a routine check up. She said vision is fine but sees changes to my cornea and suspects Fabry's disease and is sending me to a cornea specialist. She contacted my dr. who said on the phone " She doesn't have Fabry's". I am scheduled to see cornea specialist, but my biggest concern is my 8 yr old son. My reading on subject has me terrified. How should I proceed with this? View Answer		2006-06-06


	We have a sheet that says Niemann Pick type A occurs 53% in Ashkenazi and jews. From what I know my wife and I neither have any relatives from this background. How could my daughter have got this? Also is there a chance that this disease isnt always hereditary? Is there any kind of treatment at all for this disease? They say they have a cure for mice. How would we get this approved for humans and how long would it take? Are other countries approving this treatment? Are there other countries more experienced with this disease than we are? View Answer		2006-06-05


	Hi: My husband and I just got married and are trying to conceive. I have two healthy children, ages 10 and 12. Since I am now nearly 40, I went in for a complete physical. Because my husband is Jewish, and I have Jewish heritage (albeit far in the past) I was tested for Tay Sachs. The test came back positive, so my husband will be tested next. However, my physician's office told me that the test is notoriously unreliable, especially if you have been on birth control pills, which up until several weeks ago, I was. Is that correct? Is there more than one type of test that is more reliable? This is a bit nerve wracking, especially since the test takes a long time to come back (there aren't that many Jewish people in NH, so I think the labs send them out; the woman at the lab had never even heard of the test before). Thanks for any information you may have. View Answer		2006-06-01


	My husband has symptomatic Type 1 Gaucher's, which is effectively managed with cerezyme infusions every 3 weeks. We have 1 child and are trying to have another. I just learned that I am a GD carrier. When should we test our child? Would this be any reason not to have more children? We are in treatment for secondary infertility. We don't see this situation as a deal breaker since we are coping well with GD already, but are afraid our fertility doctor may refuse to assist us with conception. Anything else we should know? View Answer		2006-05-11


	what is the current population of people with tay sachs disease View Answer		2006-05-11


	My 7 year old daughter was just diagnosed with type 1 Gauchers disease. She is in need of ERT. The problem is that my insurance company is doing everything that they can to stall the treatment by wanting more opinions from other doctors. By this delay in treatment, I was wanting to know how dangerous this can be for my child. She is losing weight and feeling pretty lousy over all. I have always heard that treatment is needed pretty quick with Gauchers. She has been symptomatic for about the last 2 years. View Answer		2006-05-03


	What would you advice me on the matter that Ive just lost a child to Tay-sachs disease and would like to have more children? View Answer		2006-05-03


	About how many people died from Tay-Sachs disease? View Answer		2006-04-24


	I am trying to find any information I can on diagnosing Lysosomal Storage Disorders. I have a 21 month old son who has been under the care of a geneticist since birth. We are still unable to determine if he has a storage disorder or not. He has had blood tests done twice but they determined that the results were inconclusive and said to wait another 8 months to re-test. The first test showed him to be slightly defient for Sly Syndrome and low in all other MPS enzymes. The second test showed him in normal ranges for 2 MPS enzymes, and low - but not defiecent - in 2. Could he have a MPS dosorder, or another type of storage disorder? How can we get a definate diagnosis? He does have a clinical presentation to support the diagnosis, but so far none of the tests have been able to confirm a diagnosis. Any information you could give would be greatly appreciated! View Answer		2006-04-11


	Hi i am doing a report on the disease Tay sachs and i was wondering if you could answer some of my questions. First of all i would like to know why the parents of the child whith this disease will be a carrier and not get it themselves. I really dont understand that. Also i would like to know why mainly jews get this disease. I was doing a dictionary search for a certain word and couldnt find it if you could give me a definition for it that would be great the word is intralysosomal. View Answer		2006-04-01


	Hi I have to do a research project on Tay Sachs Disease and I have a specific question: Are there cures for Tay Sachs? (As in, for PKU , one has diet restrictions but can still live a normal life. ) Or is the person who has Tay Sachs going to die early? Thank you very much for your assistance. View Answer		2006-03-07


	How many children are born with tay sach disease a year? View Answer		2006-02-23


	What is the treatment of tay-sachs Disease? What is the anatomy and physiology of tay-sach disease? View Answer		2006-02-17


	I am the aunt of the child that started at 2 months of age not lifting his head but within a few months he was doing this fine. He has muscle weakness (using leg braces and walker fine), very slight seizures, vision problems that has been helped with glasses. He is now 2 years 10 months old. He does not talk much. All I have read is saying that with these early stages of symptoms, he should have not been with us now. Ha has made such progress and has not regressed. He was tested early January 2006 and has just been diagnosed with Krabbe Infantile Disease. He just does not sound like a classic Krabbe child....no muscle stiffness, feeding difficulties, no irritability. Can you help by telling me your option in this area? View Answer		2006-02-14


	In the disease MPS III - Sanfilippo Syndrome, the enzyme missing that causes the disease in my relatives is Heparan Sulfatase. I was wondering which/if a mutation occurs in the synthesis of heparan sulfatase that creates a nonfunctional/dysfunctional enzyme. Please tell me what type (if any) of mutation occurs in this syndrome and what is missing (ie: guanine is deleted, affecting amino acid methionine). View Answer		2005-09-14


	My niece of almost 3 months is believed to have ML II. She has been under the care of an endocrinlogist and he has now referred my brother to a geneticist because her inutero broken bones are "suspicious of mucolipidosis". My question is after some research, where should they look to go for help? Due to the rareness of this condition there does not seem to be a specific hospital or research center that can help. View Answer		2005-09-14

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