Glycogen storage disease (type-III).
نویسندگان
چکیده
Glycogen storage disease (GSD) type III is caused by deficiency of the enzyme amylo-1,6 glucosidase (debranching enzyme) leading to the storage of an abnormal glycogen with short outer chains called limit dextrins(l). Clinical manifestations are usually due to decreased hepatic glycogenolysis and occasionally due to a myopathy associated with an increase in muscle glycogen. We report a case of GSD type III with predominantly liver involvement. This is the second report of this disorder from India(2).
منابع مشابه
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 31 10 شماره
صفحات -
تاریخ انتشار 1991