Pompe disease

Pompe disease is an inherited disorder characterized by muscle weakness, respiratory insufficiency and, in some forms, enlargement of the heart. It involves deficiency of the enzyme acid α-glucosidase, which normally breaks down glycogen (stored sugar in the body). Symptoms associated with Pompe disease are due to the build-up of toxic levels of glycogen in cells, mainly affecting the heart, skeletal, and respiratory systems. Pompe disease is also known as acid maltase deficiency or glycogen storage disease type II. View testing options