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Disease Glycogen Storage Disease Type III

Name Glycogen Storage Disease Type III
Synonyms AGL DEFICIENCY | 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 | GDE DEFICIENCY GLYCOGEN STORAGE DISEASE IIIa, INCLUDED | Glycogen Debrancher Deficiencies | Glycogen Debrancher Deficiency | Glycogen Debranching Enzyme Deficiency | Glycogenosis 3 | Glycogenosis 3s | Glycogen Storage Disease III | GLYCOGEN STORAGE DISEASE IIIb, INCLUDED | GLYCOGEN STORAGE DISEASE IIIc, INCLUDED | GLYCOGEN STORAGE DISEASE IIId, INCLUDED | Glycogen Storage Disease Type 3 | GSD3 | GSD IIIa, INCLUDED | GSD IIIb, INCLUDED | GSD IIIc, INCLUDED | GSD IIId, INCLUDED | Limit Dextrinoses | Limit Dextrinosis
Definition 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.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D006010
OMIM® ID 232400
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Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Glycogen Storage Disease Has associated chemicals Has associated genes Glycogen Storage Disease Type III Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Glycogen Storage Disease Has associated chemicals Has associated genes Glycogen Storage Disease Type III Has associated chemicals Has associated genes

Top ↑ Descendants

Glycogen Storage Disease Type III Has associated chemicals Has associated genes
  Glycogen Storage Disease IIIA
  Glycogen Storage Disease IIIB
  Glycogen Storage Disease IIIC
  Glycogen Storage Disease IIID