Medical Dictionary
Main Entry:
Lesch–Ny·han syndrome Pronunciation:
'lesh-'nI-&n- Function:
noun : a rare and usually fatal genetic disorder of male childrenthat 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 ofhypoxanthine-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 disordersof 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 weresuffering from an obvious but bizarre neurological disorder. Nyhan, with the help of Lesch, a student research assistant, began investigating urate metabolism and the characteristics of the previouslyunrecognized 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 absenceof hypoxanthine-guanine phosphoribosyltransferase in children affected with the syndrome.
