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Glycogen storage disease due to hepatic glycogen synthase deficiency

Disease definition

Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.

ORPHA:2089

  • Synonym(s):
    • GSD due to hepatic glycogen synthase deficiency
    • GSD type 0a
    • Glycogen storage disease due to liver glycogen synthase deficiency
    • Glycogen storage disease type 0a
    • Glycogenosis type 0a
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E74.0
  • OMIM: 240600
  • UMLS: -
  • MeSH: -
  • GARD: 2513
  • MedDRA: -

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