Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.


Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Glycogen storage disease type 13

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.


Newline Maker

What causes glycogen storage disease type 13?

Glycogen storage disease type 13 (GSD13) is caused by changes (mutations) in the ENO3 gene.  Glycogen is a substance that is stored in muscle tissue and is used as an important source of energy for the muscles during movement and exercise.  The ENO3 gene makes a chemical called enolase, which is an enzyme that helps the muscles use glycogen for energy.  In GSD13, the ENO3 genes do not work properly such that the body cannot make enolase, and as a result, the muscles do not have enough energy to work properly.[1]
Last updated: 6/24/2012

  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. Accessed 6/20/2012.