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