Lesch–Nyhan syndrome

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LNS is inherited in an X-linked recessive fashion.

Lesch–Nyhan syndrome (LNS), also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), produced by mutations in the HPRT gene located on (the) X chromosome. LNS affects about one in 380,000 live births. The disorder was first recognized and clinically characterized by medical student Michael Lesch and his mentor, pediatrician Bill Nyhan, who published their findings in 1964.

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CLIMB CLIMB www.CLIMB.org.uk - Web

Lesch-Nyhan Syndrome Registry Lesch-Nyhan Syndrome Registry www.lndinfo.org - Web

GeneReview/NIH/UW entry on Lesch-Nyhan Syndrome GeneReview/NIH/UW entry on Lesch-Nyhan Syndrome www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lns - Web

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National Institute of Child Health and Human Devel... National Institute of Child Health and Human Development (NICHD) www.nichd.nih.gov - Web

Philip Baker's Homepage Philip Baker's Homepage www.philipbaker.org - Web

Lesch-Nyhan Syndrome. Lesch-Nyhan Syndrome. www.clevelandclinic.org/.../1297.asp?index=6035 - Web

Lesch-Nyhan Syndrome. Lesch-Nyhan Syndrome. web.archive.org/.../00054660.html - Web

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