Lesch-Nyhan disease

Lesch-Nyhan disease
a sex-linked hereditary disease caused by an enzyme deficiency resulting in overproduction of uric acid. Affected boys are mentally retarded and suffer from spasticity and gouty arthritis. They also have a compulsion for self-mutilation.
M. Lesch (1939- ) and W. L. Nyhan Jr. (1926- ), US physicians

Medical dictionary. 2011.

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Look at other dictionaries:

  • lesch-nyhan disease — noun see lesch nyhan syndrome …   Useful english dictionary

  • Lesch-Nyhan disease — a sex linked hereditary disease caused by an enzyme deficiency resulting in overproduction of uric acid. Affected boys are mentally retarded and suffer from spasticity and gouty arthritis. They also have a compulsion for self mutilation [Lesch… …   The new mediacal dictionary

  • 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 — 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 — ¦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

  • Болезнь Леш-Нихана (Lesch-Nyhan Disease) — связанное с полом наследственное заболевание, возникающее вследствие дефицита в организме определенного фермента, в результате чего у человека наблюдается образование избыточного количества мочевой кислоты. Заболевание встречается только у лиц… …   Медицинские термины

  • 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

  • Síndrome de Lesch-Nyhan — Clasificación y recursos externos CIE 10 E79.1 CIE 9 277.2 OMIM 300322 …   Wikipedia Español

  • metabolic disease — ▪ pathology Introduction       any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… …   Universalium

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