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Concept information

... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type I
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type I

Terme préférentiel

Glycogen Storage Disease Type I  

Type

  • mesh:Descriptor

Définition

  • An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.

Concept générique

Synonyme(s)

  • Deficiency, Glucosephosphatase
  • Gierke Disease
  • Gierke's Disease
  • Glucose-6-Phosphatase Deficiency
  • Glucosephosphatase Deficiency
  • Glycogenosis 1
  • Glycogen Storage Disease 1 (GSD I)
  • Hepatorenal Glycogen Storage Disease
  • von Gierke Disease
  • von Gierke's Disease

Qualificatif(s) autorisé(s)

Traductions

  • Glycogénose de type I

    français

  • Déficit en glucose-6-phosphatase
  • Glycogénose de type 1
  • Glycogénose de von Gierke
  • Glycogénose hépato-rénale
  • Glycogénose hépatorénale
  • Maladie de von Gierke

URI

http://data.loterre.fr/ark:/67375/JVR-Z2BZRPNK-6

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 08/07/2013