1. Parenting
You can opt-out at any time. Please refer to our privacy policy for contact information.

Discuss in my forum

Pompe Disease


Definition: Pompe disease is a genetic disorder involving a shortage of an enzyme called alpha-glucosidase, which causes a build-up of glycogen in cells. Particularly affected are the cells of the heart and the skeletal muscles, leading to cardiac and movement problems. There are two types of Pompe disease: infantile onset, in which the enzyme is almost completely absent and the disease progresses quickly, usually resulting in death within the first year; and late onset, which can be diagnosed in children or adults and progresses more slowly. The search for a cure for Pompe disease is the subject of the 2010 movie Extraordinary Measures. For more information about Pompe disease, visit About.com Rare Diseases and the following dedicated sites:
Also Known As: Acid Maltase Deficiency (AMD), Glycogen Storage Disease Type II (GSD-II), Acid Alpha-Glucosidase Deficiency, Glyogenosis Type II, Lysosomal Alpha-Glucosidase Deficiency
Alternate Spellings: Pompe's Disease
  1. About.com
  2. Parenting
  3. Children With Special Needs
  4. Medical Issues
  5. Article Index
  6. +Diagnosis Index
  7. What Is Pompe Disease? -- A Definition of Pompe Disease

©2014 About.com. All rights reserved.