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NIH GARD Information: Glycogen storage disease type 13

This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).

Synonyms

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

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.[5281]

For more information, visit GARD.

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