Glycogen storage disease type II overview: Difference between revisions
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==Overview== | ==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]] [[Amylase#Acid α-glucosidase|acid alpha-glucosidase]] (GAA) ({{EC number|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. | '''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]] [[Amylase#Acid α-glucosidase|acid alpha-glucosidase]] (GAA) ({{EC number|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. | ||
==Historical Perspective== | ==Historical Perspective== | ||
Revision as of 17:07, 5 January 2018
Glycogen storage disease type II Microchapters |
Differentiating Glycogen storage disease type II from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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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.