Orphanet: Glycogen storage disease due to muscle beta enolase deficiency

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Glycogen storage disease due to muscle beta-enolase deficiency

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • GSD due to muscle beta-enolase deficiency
    • Glycogenosis due to muscle beta-enolase deficiency
    • Glycogenosis type 13
    • Muscle enolase deficiency
    • Muscular enolase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: E74.0
  • OMIM: 612932
  • UMLS: C2752027
  • MeSH: -
  • GARD: 2125
  • MedDRA: -
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