See Also: glycogen storage disease type III(medicine)
glycogen storage disease type II(medicine)
glycogen storage disease type V(medicine)
glycogen storage disease type IV(medicine)
glycogen storage disease type VI(medicine)
glycogen storage disease type VII(medicine)
glycogen storage disease type I(medicine)
glycogen storage disease type VIII(medicine)
glycogen storage disease(encyclopedia)
glycogen storage disease(medicine)

glycogen storage disease type III (medicine)


glycogen storage disease type III
<disease> 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.

Inheritance: autosomal recessive