Lesch, Michael (born 1939), and Nyhan, William Leo (born 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.
Medical Dictionary
Lesch–Nyhan syndrome
noun Lesch–Ny·han syndrome \ˈlesh-ˈnī-ən-\
Medical Definition of LESCH-NYHAN SYNDROME
: a rare and usually 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
Seen & Heard
What made you want to look up Lesch-Nyhan syndrome? Please tell us where you read or heard it (including the quote, if possible).