Skip to main content

Medical Subject Headings

Search from vocabulary

Content language

Concept information

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

Preferred term

Glycogen Storage Disease Type IV  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Amylopectinoses
  • Amylopectinosis
  • Andersen Disease
  • Andersen's Disease
  • Andersens Disease
  • Brancher Deficiencies
  • Brancher Deficiency
  • Deficiencies, Brancher
  • Deficiencies, Gbe1
  • Deficiency, Brancher
  • Deficiency, Gbe1
  • Disease, Andersen
  • Disease, Andersen's
  • Gbe1 Deficiencies
  • Gbe1 Deficiency
  • Glycogen Branching Enzyme Deficiency
  • Glycogenoses, Type IV
  • Glycogenosis 4
  • Glycogenosis 4s
  • Glycogenosis IV
  • Glycogenosis IVs
  • Glycogenosis, Type IV
  • Glycogen Storage Disease Type 4
  • Type IV Glycogenoses
  • Type IV Glycogenosis

Note

  • do not confuse with ANDERSEN SYNDROME, a potassium-sensitive familial periodic paralysis

Scope note

  • 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.

History note

  • 1991(1989); use GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 4 use GLYCOGENOSIS 1975-1988

In other languages

  • glykogenoosi IV

    Finnish

  • Andersen
  • Andersenin tauti
  • dekstrinoosi IV
  • dekstrinoosi tyyppi IV
  • glykogenoosi tyyppi IV
  • morbus Andersen
  • tyypin IV dekstrinoosi
  • tyypin IV glykogenoosi
  • tyyppi IV dekstrinoosi
  • tyyppi IV glykogenoosi
  • Glykogeninlagringssjukdom typ IV

    Swedish

  • Andersens sjukdom
  • Glykogenos 4
  • Glykogenos typ IV

URI

http://www.yso.fi/onto/mesh/D006011

Download this concept:

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