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Glycogen storage disease due to muscle phosphofructokinase deficiency

Disease definition

Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.

ORPHA:371

  • Synonym(s):
    • GSD due to muscle phosphofructokinase deficiency
    • GSD type 7
    • GSD type VII
    • Glycogen storage disease type 7
    • Glycogen storage disease type VII
    • Glycogenosis due to muscle phosphofructokinase deficiency
    • Glycogenosis type 7
    • Glycogenosis type VII
    • Tarui disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E74.0
  • OMIM: 232800
  • UMLS: C0017926
  • MeSH: -
  • GARD: 5686
  • MedDRA: 10053241

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