Educational Resources

 

Genetic Disorders Fact Sheets for Parents
http://southeastgenetics.org/disease.php
Content provided by Screening, Technology, and Research in Genetics (Star-G).

PKU Food List Booklet
Order Form
Pocket-sized comprehensive food list for patients with Phenylketonuria. This self-explanatory book on the Phenylalanine (Phe) Exchange system contains information on foods found in the Amino-Acid Analyzer, a computer program used by dietitians to analyze Phe content. Information on household measurements and serving sizes, calories, grams of protein, Phe content, and Phe exchanges is provided in ledger format. Also included are sub-lists of common foods, room to compile a favorite food log and keep notes, and helpful resources. A great quick reference of a wide variety of foods.

MSUD Food List Booklet
Order Form
Pocket-sized comprehensive food list for patients with Maple Syrup Urine Disease. This self-explanatory book on the Leucine (LEU) Exchange System contains information on foods found in the Amino-Acid Analyzer, a computer program used by dietitians to analyze Leu content. Information on household measurements and serving sizes, calories, grams of protein, Leu content, and Leu exchanges is provided in ledger format. Also included are sub-lists of common foods, formatted pages to compile a favorite food log and keep notes, and helpful resources. This is a great quick reference of a wide variety of foods.

NBS Connect
https://nbs.patientcrossroads.org/
The Newborn Screening (NBS Connect) patient registry serves as an internet-based support network for parents, guardians, and individuals with inherited metabolic disorders (IMDs). NBS Connect captures and analyzes information related to IMDs in an effort to assess gaps in service, access to care and to develop best standards of practice for clinical management and connect families to research opportunities. NBS Connect strives to improve the quality of care of individuals with IMDs.

Southeast Regional Network (SERN) Consumers
http://southeastgenetics.org/consumers/
The Southeast Regional Network (SERN) is a federally-funded initiative dedicated to improving the health and quality of life of individuals with heritable disorders.  Providing patients and families with up-to-date, relevant information about newborn screening (NBS) and genetics is an important goal of SERN.  Information and resources specific to patients with genetic disorders and their families are available at the website.

Metabolic Camp
https://metcamp.net
The Annual Metabolic Camp at Emory University was developed by Rani H. Singh, PhD, RD to provide a supportive environment for girls and women with PKU and MSUD.  A holistic approach to managing these disorders is emphasized, with particular focus on nutrition, genetics, and overall well-being, with the intention of arresting the disease process and minimizing the instances of miscarriages and severe birth defects which are high in this population.