About The Medical Condition Glycogen Debranching Enzyme Deficiency

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Find the definition of the medical term Glycogen Debranching Enzyme Deficiency. Glycogen Debranching Enzyme Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Glycogen Debranching Enzyme Deficiency

Glycogen Debranching Enzyme Deficiency Medical Condition Defined & Explained
Glycogen Debranching Enzyme Deficiency Medical Condition

What's The Definition Of The Medical Condition Glycogen Debranching Enzyme Deficiency?

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.

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