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Sunday, January 8, 2012

Lesch-Nyhan Syndrome Symptoms

Also known as Nyhan's syndrome or Kelley-Seegmiller syndrome, Lesch-Nyhan Syndrome (LNS) is a rare, genetically inherited disorder. It is caused by the deficiency or near absence of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). Owing to the deficiency of this enzyme, the affected person's body is unable to metabolize purines from DNA and RNA, resulting in the excessive build up of uric acid, manifesting in a condition called hyperuricemia.

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