Glycogenosis type 3
Overview
Glycogenosis type III is resulted from deficiency of the debranching enzyme amylo-1,6-glucosidase. It involves muscle, liver, heart, and rarely peripheral nerve. There is hypoglycemia and sometimes chronic hyperuricemia. The clinical manifestations are mild and therefore glycogenosis type III is compatible with long term survival and close to normal daily life.
Diagnosis
Demonstration of enzyme deficiency in muscle or liver biopsy or leukocytes.