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Genetic and Rare Diseases Information Center (GARD)

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Glycogen storage disease type 13


Other Names for this Disease

  • Enolase 3 deficiency
  • Enolase-beta deficiency
  • Glycogen storage disease 13
  • GSD13
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Overview

Glycogen storage disease type 13 (GSD13), also known as β-enolase deficiency, is an inherited disease of the muscles.  The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain.  GSD13 is caused by changes (mutations) in the ENO3 gene and is inherited in an autosomal recessive pattern.[1]
Last updated: 6/24/2012

References

  1. Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N. Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Annals of Neurology. 2001; 50:202-207. http://www.ncbi.nlm.nih.gov/pubmed/11506403. Accessed 6/20/2012.
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In Depth Information

  • 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 13. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Enolase 3 deficiency
  • Enolase-beta deficiency
  • Glycogen storage disease 13
  • GSD13
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.