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

Preferred term

Glycogen Storage Disease Type III  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Amylo-1,6-Glucosidase Deficiencies
  • Amylo 1,6 Glucosidase Deficiency
  • Amylo-1,6-Glucosidase Deficiency
  • Cori Disease
  • Cori's Disease
  • Coris Disease
  • Debrancher Deficiencies
  • Debrancher Deficiencies, Glycogen
  • Debrancher Deficiency
  • Debrancher Deficiency, Glycogen
  • Deficiencies, Amylo-1,6-Glucosidase
  • Deficiencies, Debrancher
  • Deficiencies, Glycogen Debrancher
  • Deficiency, Amylo-1,6-Glucosidase
  • Deficiency, Debrancher
  • Deficiency, Glycogen Debrancher
  • Dextrinoses, Limit
  • Dextrinosis, Limit
  • Disease, Cori
  • Disease, Cori's
  • Disease, Forbes
  • Forbes Disease
  • Glycogen Debrancher Deficiencies
  • Glycogen Debrancher Deficiency
  • Glycogen Debranching Enzyme Deficiency
  • Glycogenosis 3
  • Glycogenosis 3s
  • Glycogen Storage Disease III
  • Glycogen Storage Disease Type 3
  • Limit Dextrinoses
  • Limit Dextrinosis

Note

  • do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

Scope note

  • An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.

History note

  • 1991(1989); use GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 3 use GLYCOGENOSIS 1975-1988

In other languages

  • glykogenoosi III

    Finnish

  • Corin tauti
  • dekstrinoosi III
  • dekstrinoosi tyyppi III
  • glykogenoosi tyyppi III
  • morbus Cor
  • tyypin III dekstrinoosi
  • tyypin III glykogenoosi
  • tyyppi III dekstrinoosi
  • tyyppi III glykogenoosi
  • Glykogeninlagringssjukdom typ III

    Swedish

  • Cori-Forbes sjukdom
  • Glykogenos 3
  • Glykogenos typ III

URI

http://www.yso.fi/onto/mesh/D006010

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