Lesch-Nyhan syndrome

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 fingers, and a deficiency of hypoxanthine-guanine phosphoribosyltransferase called also Lesch-Nyhan disease
Lesch Michael (b 1939), and
Nyhan William Leo (b 1926)
American pediatricians. Nyhan held the position of professor of pediatrics at several medical schools, including Johns Hopkins. He had a major interest in the disorders of amino acid metabolism and routinely analyzed blood and urine for amino acids. The urine of a pair of patients, two brothers, was found to contain urate crystals. In addition, the brothers were suffering from an obvious but unknown neurological disorder. Nyhan, aided by Lesch, a student research assistant, began investigating urate metabolism and the characteristics of the previously unrecognized genetic disorder exhibited by their two cases. Lesch published a description of the Lesch-Nyhan syndrome in 1964. This report laid the groundwork for the discovery in 1967 of the absence of hypoxanthine-guanine phosphoribosyltransferase in children affected with the syndrome.

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Lesch-Ny·han syndrome (leshґ niґən) [Michael Lesch, American cardiologist, born 1939; William L. Nyhan, Jr., American physician, born 1926] see under syndrome.

Medical dictionary. 2011.

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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 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 — 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… …   Dictionary of molecular biology

  • 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

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

  • Lesch-Nyhan-Syndrom — Klassifikation nach ICD 10 E79.1 Lesch Nyhan Syndrom …   Deutsch Wikipedia

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