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Glycogen storage disease due to muscle beta-enolase deficiency

What is Glycogen storage disease due to muscle beta-enolase deficiency?

Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.

Other condition names

  • GSD due to muscle beta-enolase deficiency
  • GSDXIII
  • Glycogenosis due to muscle beta-enolase deficiency
  • Glycogenosis type 13
  • Muscle enolase deficiency
  • Muscular enolase deficiency

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Adult
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.