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Pompe Disease

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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
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