Lesch-Nyhan syndrome
A sex-linked recessive inherited disease in humans that results from mutation in the gene for the purine salvage enzyme HGPRT, located on the X chromosome. Results in severe mental retardation and distressing behavioural abnormalities, such as compulsive self-mutilation.

Dictionary of molecular biology. 2004.

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  • Lesch–Nyhan syndrome — Lesch Nyhan syndrome Classification and external resources ICD 10 E79.1 ICD 9 277.2 …   Wikipedia

  • Lesch-Nyhan syndrome — Lesch Ny·han syndrome lesh nī ən n a rare and usu. fatal genetic disorder of male children that is inherited as an X linked recessive trait and is characterized by hyperuricemia, mental retardation, spasticity, compulsive biting of the lips and… …   Medical dictionary

  • Lesch-Nyhan syndrome — Lesch Nyhan syndrome. См. синдром Леша Найхана. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Lesch-Nyhan syndrome — Infobox Disease Name = Lesch Nyhan syndrome Caption = Philip Baker, an adult with Lesch Nyhan Syndrome. Visible in this picture are the restraints on Philip s chair that he must use to control his involuntary movement. ICD10 = ICD10|E|79|1|e|70… …   Wikipedia

  • Lesch-Nyhan syndrome — ▪ pathology       hereditary metabolic disorder affecting the central nervous system and characterized by incoordination, mental retardation, aggressive behaviour, and compulsive biting. The cause of the syndrome is a defective organic catalyst… …   Universalium

  • lesch-nyhan syndrome — ¦leshˈnīən noun also lesch nyhan disease Usage: usually capitalized L&N Etymology: after Michael Lesch b1939 American cardiologist and William L. Nyhan b1926 American pediatrician : a rare and usually fatal genetic disorder of male children that… …   Useful english dictionary

  • Lesch-Nyhan syndrome — noun A rare inherited genetic disorder, caused by a deficiency of HGPRT, in which uric acid builds up in all body fluids …   Wiktionary

  • Lesch - Nyhan syndrome — …   Useful english dictionary

  • Синдром Леш—Найхена (Lesch—Nyhan Syndrome) — С. Л. Н. (или синдром HPRT фермента гипоксантин гуанин фосфорибосилтрансферазы) представляет собой редкую, сцепленную с Х хромосомой врожденную аномалию пуринового метаболизма, проявляющуюся только у мужчин. Ее наиболее характерный и ужасающий… …   Психологическая энциклопедия

  • Syndrome de lesch-nyhan — Autre nom Déficit en hypoxanthine guanine phosphoribosyltransférase Référence MIM …   Wikipédia en Français

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