Inborn Errors of Carbohydrate Metabolism - Glycogen

Glycogen

Carbohydrates are most commonly stored as glycogen in humans. Consequently, enzyme deficiencies that leads to impaired synthesis or degradation of glycogen are also considered disorders of carbohydrates metabolism. The two organs most commonly affected are the liver and the skeletal muscle. Glycogen storage diseases that affect the liver typically cause hepatomegaly and hypoglycemia. Those that affect skeletal muscle cause exercise intolerance, progressive weakness and cramping.