Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Glycogen storage disease type 2


Other Names for this Disease
  • Acid maltase deficiency disease
  • Aglucosidase alfa
  • Alpha-1,4-glucosidase acid deficiency
  • Alpha-1,4-glucosidase deficiency
  • Cardiomegalia glycogenica diffusa
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Glycogen storage disease type 2, also known as Pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder caused by an inborn lack of the enzyme acid alpha-glucosidase (also known as 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. This accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally.[1][2] Glycogen storage disease type 2 is a single disease continuum with variable rates of disease progression.[1] 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][3] Another similar drug called Lumizyme has recently been approved for the treatment this disease.[3][4] 
 
Last updated: 5/14/2015

References

  1. Plotz P. Pompe Disease. National Organization for Rare Disorders (NORD). 2013; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/404/viewAbstract. Accessed 5/14/2015.
  2. Pompe disease. Genetics Home Reference (GHR). February 2010; http://ghr.nlm.nih.gov/condition/pompe-disease. Accessed 5/14/2015.
  3. NINDS Pompe Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). February 20, 2013; http://www.ninds.nih.gov/disorders/pompe/pompe.htm. Accessed 5/14/2015.
  4. FDA expands approval of drug to treat Pompe disease to patients of all ages; removes risk mitigation strategy requirements. U.S. Food and Drug Administration (FDA). August 1, 2014; http://www.fda.gov/newsevents/newsroom/pressannouncements/ucm407563.htm. Accessed 5/14/2015.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Glycogen storage disease type 2 have been answered. See questions and answers . You can also submit a new question.

Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.
Other Names for this Disease
  • Acid maltase deficiency disease
  • Aglucosidase alfa
  • Alpha-1,4-glucosidase acid deficiency
  • Alpha-1,4-glucosidase deficiency
  • Cardiomegalia glycogenica diffusa
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.