Glycogen storage disease 1a
What is glycogen storage disease type 1a?
Glycogen storage disease type 1a (GSD1a) is a genetic condition where the body cannot get energy from glycogen stored in the liver. Typically our bodies break down the food we eat into energy. Some of this energy (called glucose) gets used right away, while the rest gets stored as glycogen and fat in our muscles and liver for later use. People with GSD1a have a genetic change that makes their bodies unable to turn the extra glycogen stored in their liver into glucose that they can use for energy. Instead of acting as a source of energy between meals, the glycogen builds up in the liver and other organs and causes the signs and symptoms of glycogen storage disease 1a.
People with glycogen storage disease type 1a may have low blood sugar, seizures, delayed growth and enlarged organs if not treated. If a child with glycogen storage disease type 1a has vomiting, weakness, fever or shakiness for more than 12 hours, the parent should call the child’s pediatric metabolic specialist to discuss next steps for treatment. In many cases the pediatric metabolic specialist together with the metabolic dietitian will provide a detailed letter to discuss what to do when a child with glycogen storage disease type 1a is ill and what emergency room physicians should do when the child arrives at the hospital. To find a medical professional nearby who can discuss information on the care and treatment of people with glycogen storage disease type 1a, search the listings of medical geneticists American College of Medical Geneticists website . To find a metabolic dietitian specializing in dietary treatment and care for people with metabolic conditions, visit the GMDI Find a Metabolic Dietitian webpage.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/glycogen-storage-disease-1a/overview/9174 • DATE UPDATED: 2016-07-04
Glycogen and Glycogen Storage Diseases. Association for Glycogen Storage Disease website. http://www.agsdus.org/html/glycogenandgsds.html
Bali, DS, Chen, YT, and Goldstein, JL. Glycogen Storage Disease Type I GeneReviews website. http://www.ncbi.nlm.nih.gov/books/NBK1312/