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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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Symptoms


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What are the signs and symptoms of glycogen storage disease type 13?

Glycogen storage disease type 13 causes muscle pain (myalgia).  Individuals with GSD13 also experience exercise intolerance, which means they have difficulty exercising because they may have muscle weakness and tire easily.[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.