Glycogen storage disease type III

Glycogen storage disease (GSD) type III, is an inherited disorder typically characterized by liver disease during childhood and slowly progressive muscle weakness in adult years. GSDIII is caused by a defect in the body’s ability to completely break down glycogen (the form in which the body stores sugar) to glucose (a free form of sugar and the body’s main source of energy) due to a deficiency of an enzyme called glycogen debranching enzyme. Symptoms associated with GSDIII are due to excessive accumulation of abnormally formed glycogen—primarily in the liver, skeletal, and heart muscles—as well as low blood glucose levels. View testing options