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... > 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

Término preferido

Glycogen Storage Disease Type I  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Etiquetas alternativas

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

En otras lenguas

  • Glycogénose de type I

    francés

  • 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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