Glycogen storage disease type III
What is glycogen storage disease type III?
Glycogen storage disease type III, or GSD III, is a genetic condition where your body cannot break down glycogen into glucose for energy. Typically, our bodies store extra energy from our food as glycogen. In between meals (also called fasting), our bodies turn the glycogen into glucose to give us energy. People with GSD III have a genetic change which makes their bodies unable to turn stored glycogen into glucose. Instead of acting as a source of energy between meals, the glycogen builds up in the liver and/or muscles and causes the signs and symptoms of glycogen storage disease type III.
GSD III is one of many types of glycogen storage diseases. Each one has a unique genetic cause and affects the body in different ways. The group of conditions all involve the build up of glycogen in our bodies leading to health problems. Specifically, people with glycogen storage disease type III may have low blood sugar, seizures, delayed growth and enlarged organs if not treated. Initially people with GSD III have low blood sugar. The best person to evaluate whether the cause of the low blood sugar is a glycogen storage disease is a pediatric metabolic or genetic specialist. Genetics and metabolic doctors in your area can be found by talking with your child's pediatrician or family doctor or by using the Find A Genetic Service tool at the American College of Medical Genetics.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/glycogen-storage-disease-iii/overview/9264 • DATE UPDATED: 2016-07-20
Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2012 Sep 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK26372/