Pompe Disease

Glycogen Storage Disease Type II

Call for an Appointment 855-855-6484
Overview

Pompe disease is a genetic disease that occurs when a specific enzyme (acid alpha-glucosidase) is absent or the body doesn't produce enough. This results in the buildup of a complex sugar called glycogen, which damages muscles, including the heart. The only FDA-approved treatment for Pompe disease -- enzyme replacement therapy -- was developed by genetic specialists at Duke. Our team of specialists has helped people diagnosed with Pompe disease from around the world to live longer and enjoy a better quality of life.