Glycogen storage disease type II overview: Difference between revisions
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{{Glycogen storage disease type II}} | {{Glycogen storage disease type II}} | ||
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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== | |||
==Classification== | |||
==Pathophysiology== | |||
==Causes== | |||
==Differentiating Glycogen storage disease type II from Other Diseases== | |||
==Epidemiology and Demographics== | |||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
===Natural History=== | |||
===Complications=== | |||
===Prognosis=== | |||
==Diagnosis== | |||
===Diagnostic Criteria=== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | |||
===Medical Therapy=== | |||
===Surgery=== | |||
===Prevention=== | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
{{WS}} | |||
{{WH}} |
Revision as of 14:58, 19 July 2016
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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.