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Glycogen storage disease due to phosphorylase kinase deficiency

Disease definition

Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms).

ORPHA:370

  • Synonym(s):
    • GSD due to phosphorylase kinase deficiency
    • GSD type 9
    • GSD type IX
    • Glycogen storage disease due to PhK deficiency
    • Glycogen storage disease type 9
    • Glycogen storage disease type IX
    • Glycogenosis due to phosphorylase kinase deficiency
    • Glycogenosis type 9
    • Glycogenosis type IX
    • Gycogenosis due to PhK deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive or X-linked recessive 
  • Age of onset: All ages
  • ICD-10: E74.0
  • OMIM: -
  • UMLS: C0268147
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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