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Glycogen storage disease type 2

Other Names for this Disease
  • Acid maltase deficiency disease
  • Aglucosidase alfa
  • Alpha-1,4-glucosidase deficiency
  • Cardiomegalia glycogenica diffusa
  • Deficiency of alpha-glucosidase
More Names
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Glycogen storage disease type 2, also known as Pompe disease and acid maltase deficiency disease, is an inherited metabolic disorder caused by an inborn lack of the enzyme alpha-1,4 glucosidase (lysosomal glucosidase; acid maltase), which is necessary to break down glycogen, a substance that is a source of energy for the body. This enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes, which are structures within cells that break down waste products within the cell.[1] This accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally.[2] Glycogen storage disease type 2 is a single disease continuum with variable rates of disease progression. In 2006, the U.S. Food and Drug Administration (FDA) approved the enzyme replacement therapy Myozyme as a treatment for all patients with glycogen storage disease type 2.[1]
Last updated: 12/24/2008


  1. Pompe Disease. National Organization for Rare Disorders (NORD). 2007; Accessed 12/24/2008.
  2. Pompe disease. Genetics Home Reference (GHR). October 2006; Accessed 12/24/2008.
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  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Glycogen storage disease type 2. Click on the link to view a sample search on this topic.

Press Releases

  • The U.S. Food and Drug Administration (FDA) provides information about an FDA-approved treatment for Pompe disease called Myozyme through a 2006 Press Release. To view this information, click on the above link.

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