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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 IV
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type IV

Terme préférentiel

Glycogen Storage Disease Type IV  

Type

  • mesh:Descriptor

Définition

  • An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.

Concept générique

Synonyme(s)

  • Amylopectinosis
  • Andersen Disease
  • Andersen's Disease
  • Brancher Deficiency
  • Deficiency, Brancher
  • Gbe1 Deficiency
  • Glycogen Branching Enzyme Deficiency
  • Glycogenosis 4
  • Glycogenosis IV
  • Glycogen Storage Disease Type 4
  • Type IV Glycogenosis

Qualificatif(s) autorisé(s)

Traductions

  • Glycogénose de type IV

    français

  • Amylopectinose
  • Déficit en en enzyme branchante
  • Déficit en enzyme branchante du glycogène
  • Glycogénose d'Andersen
  • Glycogénose de type 4
  • Maladie d'Andersen

URI

http://data.loterre.fr/ark:/67375/JVR-SX495XHP-S

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RDF/XML TURTLE JSON-LD Date de création 12/12/1974, dernière modification le 03/07/2012