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Glycogen storage disease due to muscle phosphorylase kinase deficiency

Disease definition

Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.

ORPHA:715

  • Synonym(s):
    • GSD due to muscle phosphorylase kinase deficiency
    • GSD type 9D
    • GSD type 9E
    • GSD type IXd
    • GSD type IXe
    • Glycogen storage disease type 9D
    • Glycogen storage disease type 9E
    • Glycogen storage disease type IXd
    • Glycogen storage disease type IXe
    • Glycogenosis due to muscle phosphorylase kinase deficiency
    • Glycogenosis type 9D
    • Glycogenosis type 9E
    • Glycogenosis type IXd
    • Glycogenosis type IXe
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or X-linked recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: E74.0
  • OMIM: 300559
  • UMLS: -
  • MeSH: -
  • GARD: 3858
  • MedDRA: -

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