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Glycogen storage disease due to liver phosphorylase kinase deficiency

Disease definition

Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.

ORPHA:264580

  • Synonym(s):
    • GSD due to liver phosphorylase kinase deficiency
    • GSD type 9A
    • GSD type 9C
    • GSD type IXa
    • GSD type IXc
    • Glycogen storage disease type 9A
    • Glycogen storage disease type 9C
    • Glycogen storage disease type IXa
    • Glycogen storage disease type IXc
    • Glycogenosis due to liver phosphorylase kinase deficiency
    • Glycogenosis type 9A
    • Glycogenosis type 9C
    • Glycogenosis type IXa
    • Glycogenosis type IXc
    • XLG
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive or X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: E74.0
  • OMIM: 306000  613027
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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