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Diseases

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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Tests & Diagnosis

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How is glycogen storage disease type 13 diagnosed?

Glycogen storage disease type 13 is diagnosed by taking a sample of muscle tissue (muscle biopsy) to determine if there is enough of the chemical enolase working in the muscle cells.  Genetic testing can also be done to look for changes (mutations) in the ENO3 gene.[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.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.