Lesch-Nyhan syndrome overview: Difference between revisions
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==Overview== | ==Overview== | ||
'''Lesch-Nyhan's syndrome''', is a rare, [[inherited disorder]] caused by a deficiency of the [[enzyme]] [[hypoxanthine-guanine phosphoribosyltransferase]] (HGPRT). | '''Lesch-Nyhan's syndrome''', is a rare, [[inherited disorder]] caused by a deficiency of the [[enzyme]] [[hypoxanthine-guanine phosphoribosyltransferase]] (HGPRT). | ||
==Historical Perspective== | |||
==Classification== | |||
==Pathophysiology== | |||
==Causes== | |||
==Differentiating Lesch-Nyhan syndrome from Other Diseases== | |||
==Epidemiology and Demographics== | |||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
==Diagnosis== | |||
===Diagnostic Criteria=== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | |||
===Medical Therapy=== | |||
===Surgery=== | |||
===Primary Prevention=== | |||
===Secondary Prevention=== | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Endocrinology]] | |||
[[Category:Pediatrics]] | |||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Latest revision as of 18:51, 26 July 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
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Overview
Lesch-Nyhan's syndrome, is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT).