Lesch-Nyhan Syndrome: a rare disorder of self-mutilating behavior

Lesch-Nyhan Syndrome: a rare disorder of self-mutilating behavior

This paper describes Lesch-Nyhan syndrome in a 1-year-old boy. This X-linked recessive error of purine metabolism presents in infancy with a constellation of mental and developmental retardation, self-mutilating behavior, neurological features and abnormal urine uric acid: creatinine ratio. The basi...

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Bibliographic Details
Main Authors: Mrinal Gupta, Vikram K. Mahajan, Vikas Sharma, Pushpinder S. Chauhan, Karaninder S. Mehta
Format: Article
Language:English
Published: Our Dermatology Online 2014-01-01
Series:Nasza Dermatologia Online
Subjects:
Dysarthria
Hyperuricemia
Hypoxanthine-guanine phosphoribosyl transferase
Inborn Errors
Metabolism Inborn Errors
Purine metabolism
Self-mutilating behavior
Online Access:http://www.odermatol.com/issue-in-html/2014-1-17-leschnyhan/

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http://www.odermatol.com/issue-in-html/2014-1-17-leschnyhan/

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