Perspectives

Information About Pompe Disease

About

Pompe disease is a rare genetic disease characterized by the abnormal buildup of a sugar molecule called glycogen inside cells. Learn more about the disease here.

Causes

Pompe disease is an inherited condition caused by genetic mutations in the GAA gene, which provides instructions for the acid alpha-glucosidase enzyme. Learn more about what causes the disease here.

Symptoms

Muscle weakness is the predominant symptom of Pompe disease. Other symptoms depend on the type of Pompe patients have. Learn more about the symptoms of the disease here.