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Glycogen Storage Disease Type III

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.

Year introduced: 1991(1989)

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Subheadings:

Tree Number(s): C16.320.565.202.449.520, C18.452.648.202.449.520

MeSH Unique ID: D006010

Entry Terms:

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

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