glycogen storage disease type III
Glycogen storage disease type III (GSD III), also known as Cori disease, is a rare genetic disorder that affects the body's ability to break down glycogen, a stored form of glucose. This condition is caused by a deficiency of the enzyme debranching enzyme, which is essential for the proper metabolism of glycogen. As a result, glycogen accumulates in the liver and muscles, leading to various health issues.
Symptoms of GSD III can include muscle weakness, low blood sugar, and liver enlargement. The severity of symptoms can vary among individuals, and some may experience milder forms of the disease. Management typically involves dietary changes and regular monitoring to maintain blood sugar levels and overall health.