Pompe Disease

Pompe disease, or glycogen storage disease type II, is a genetic condition that causes tissue in the heart and skeleton to break down. The genetic mutation causes an enzyme called acid alpha-glucosidase (GAA) not to break down glycogen, which is one of the substances that cells use to store energy. Until recently, many infants who were diagnosed with the condition passed away before their first birthday.

Now, pharmacological treatments such as Myozyme and Lumizyme have shown extraordinarily promising results for some patients. The Stanford Children’s Health Pediatric Neuromuscular Diseases Clinic was one of the first children’s clinics in the nation to offer these treatments.