What is Lesch-Nyhan syndrome (LNS) is 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. 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.
LNS is due to mutations in the HPRT1 gene, so named because it codes for the enzyme hypoxanthine-guanine phosphoribosyltransferase. This enzyme is involved in the biochemical pathways, the body uses to produce purines, one of the components of DNA and RNA. Defects of the enzyme lead to increased productions of uric acid. Since HPRT gene is located on the X-chromosome, LNS is an X-linked inherited disease.