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Glycogen storage disease due to glucose-6-phosphatase deficiency

Disease definition

Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.

ORPHA:364

  • Synonym(s):
    • G6P deficiency
    • GSD due to G6P deficiency
    • GSD type 1
    • GSD type I
    • Glycogen storage disease due to G6P deficiency
    • Glycogen storage disease type 1
    • Glycogen storage disease type I
    • Glycogenosis type 1
    • Glycogenosis type I
    • Hepatorenal glycogenosis
    • Von Gierke disease
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E74.0
  • OMIM: 232200  232220  232240
  • UMLS: C0017920  C2919796
  • MeSH: -
  • GARD: 7864
  • MedDRA: 10018464

Detailed information

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