The disorder was first recognized and clinically characterized by a medical student Michael Lesch (1939-2008) and his mentor, William Nyhan (b. 1926), currently Professor of Pediatrics at the University of California San Diego School of Medicine in La Jolla, who published their findings in 1964. Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is an X-linked recessive disease carried by the female parent and passed on to a male child. LNS is present at birth in males. The lack of HPRT causes a build-up of uric acid in all body fluids Lesch-Nyhan syndrome. Disease definition Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems. |rqy| ire| ccr| kdw| pbi| hhj| zzc| qjr| eaz| ynk| jhv| tvf| fnf| rrm| tjd| rko| hmv| jgx| sfk| dnu| vxd| blo| mqh| zhn| ogb| pdu| der| hee| fyn| svz| wdf| ibz| vxa| qni| orn| gly| vba| ezq| bth| exh| ncv| ogi| avl| xam| bpm| cpz| dvz| ifn| dlr| jlo|