Glycogen storage disease type II overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Glycogen storage disease type II (also called Pompe disease or acid maltase deficiency) is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA) (EC 3.2.1.20 ), which is needed to break down glycogen, a stored form of sugar used for energy. It is the only glycogen storage disease with a defect in lysosomal metabolism.