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Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

Disease definition

A benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.


Classification level: Disorder
  • Synonym(s):
    • GSD due to liver and muscle phosphorylase kinase deficiency
    • GSD type 9B
    • GSD type IXb
    • Glycogen storage disease type 9B
    • Glycogen storage disease type IXb
    • Glycogenosis due to liver and muscle phosphorylase kinase deficiency
    • Glycogenosis type 9B
    • Glycogenosis type IXb
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E74.0
  • ICD-11: 5C51.3
  • OMIM: 261750
  • UMLS: C0543514
  • MeSH: C563008
  • GARD: -
  • MedDRA: -
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