Orphanet: Glycogen storage disease due to hepatic glycogen synthase deficiency

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Glycogen storage disease due to hepatic glycogen synthase deficiency

Disease definition

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


Classification level: Disorder
  • 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: C1855861
  • MeSH: -
  • GARD: 2513
  • MedDRA: -

Detailed information

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