The article presents a clinical case of Lesch-Nyhan syndrome, or hereditary forms of gout, recessive, coupled with X-linked disease associated with a complete absence of the enzyme hypoxanthine-guanine-phosphoribosyltransferase. The diagnosis of the syndrome Lesch — Nyhan put on the basis of the three main clinical symptoms: increased production of uric acid, neurological dysfunction, cognitive and behavioral narusheniy.Slozhnosti diagnosis of the disease in the patient presented due to rarity of this disease, poorly pronounced CNS, the absence of DNA — research and enzimodiagnostiki.
Lesch-Nyhan syndrome, hypoxanthine-guanine phosphoribosyl (GFRT), HPRT1 gene, hyperuricemia, gout, allopurinol
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