Learning About Pompe
Forms of Pompe
Diagnosing PompeLearning About Pompe: What Is Pompe Disease?
Pompe disease (pronounced "pom-PAY" in the United States or "POM-puh" in Europe) is a rare neuromuscular genetic disorder that occurs in babies, children, and adults who inherit a defective gene from their parents.
Progressive muscle weakness is the most common symptom of both the infantile-onset and the late-onset forms of Pompe disease. This illustration explains how the a buildup in part of cells leads to the muscle weakness:
The muscles most often affected are those used for breathing and mobility (the ability to move around). In infants, the heart muscle is often severely affected.
What causes Pompe disease?
In people with Pompe disease, there is a defect in a gene that is responsible for making an enzyme called acid alpha-glucosidase (pronounced AL-fa glue-CO-sih-days and abbreviated as GAA). Enzymes are proteins that do specific jobs to help keep the cells in the body working normally.
In people with Pompe disease, the GAA enzyme is either missing or in short supply. The job of acid alpha-glucosidase is to break down glycogen (GLY-co-jen), a form of sugar stored in muscle cells throughout the body. Thus, the missing enzyme leads to a build up of glycogen in the lysosomes of cells.
