Skip to main content

Medical Subject Headings (thesaurus)

Search from vocabulary

align
annotate
download

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

Preferred term

Glycogen Storage Disease Type IV  

Type

  • mesh:Descriptor

Definition

  • 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.

Broader concept

Entry terms

  • 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

Allowable Qualifier(s)

In other languages

  • Glycogénose de type IV

    French

  • 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

Download this concept:

RDF/XML TURTLE JSON-LD Created 12/12/74, last modified 7/3/12