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Learn About Glycogen Storage Disease Type 13

What is the definition of Glycogen Storage Disease Type 13?
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 in the ENO3 gene and is inherited in an autosomal recessive pattern.
What are the alternative names for Glycogen Storage Disease Type 13?
  • Glycogen storage disease type 13
  • Enolase 3 deficiency
  • Enolase-beta deficiency
  • GSD13
  • Glycogen storage disease 13
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center