Glycogen storage disease due to glycogen debranching enzyme deficiency
From BugSigDB
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.
- Aliases
- amylo 1,6 glucosidase deficiency
- Amylo-1,6-glucosidase deficiency
- Cori disease
- Cori-Forbes disease
- deficiency of debranching enzyme
- deficiency of dextrin
- Forbes disease
- GDE deficiency
- glycogen storage disease III
- Glycogen storage disease type 3
- Glycogen Storage Disease Type III
- Glycogen storage disease, type III (disorder)
- Glycogenosis due to glycogen debranching enzyme deficiency
- Glycogenosis type 3
- GSD due to glycogen debranching enzyme deficiency
- GSD type 3
- GSDIII
- Limit dextrinosis