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Sagot :
The glycogen-debranching enzyme, a single 160-kDa protein with two distinct catalytic activity on one protein—oligo-1,4-1,4-glucanotransferase and amylo-1,6-glucosidase—plays a significant role in the breakdown of glycogen. Function must include both activity and glycogen binding.
Debrancher activities are essentially nonexistent in the affected organs of GSD III, which results in an excessive buildup of aberrant glycogen with truncated outer chains. The majority of patients (GSD IIIa) exhibit muscle and liver involvement with varying degrees of severity and clinical onset. Fasting hypoglycemia, hepatomegaly, growth Deline progressive myopathy, and cardiomyopathy are typical symptoms. There may be no myopathy present in some people who just have liver involvement.
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