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Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Disease definition

Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.

ORPHA:713

  • Synonym(s):
    • GSD due to phosphoglycerate kinase 1 deficiency
    • Glycogenosis due to phosphoglycerate kinase 1 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: All ages
  • ICD-10: E74.0
  • OMIM: 300653
  • UMLS: C0684324  C1970848
  • MeSH: -
  • GARD: 7389
  • MedDRA: -

Additional information

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