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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
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Overview
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]
References
- Pompe Disease. National Organization for Rare Disorders (NORD). http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pompe%20Disease. Accessed December 24, 2008.
- Pompe disease. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=pompedisease. Accessed December 24, 2008.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 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.
On this page
General Information
- The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
- Genetics Home Reference (GHR) contains information on Glycogen storage disease type 2. Click on the link to go to GHR and review the information.
- The Association for Glycogen Storage Disease has an information page on glycogen storage disease type 2. Click on the link above to view this information page.
- 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 National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Glycogen storage disease type 2. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Talsma, et al., A Rare Presentation of Childhood Pompe Disease: Cardiac Involvement Provoked by Epstein-Barr Virus Infection. Pediatrics 2002;109:e65.
- Van den Hout, et al., Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human {alpha}-Glucosidase From Milk, Pediatrics 2004;113: e448-e457.
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.
Insurance Issues
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.