レッシュ・ナイハン症候群の解説記事です。治療の根拠となる図解を含めたわかりやすい解説や、患者さんの助けとなる治療方法・施設・患者会・事例などの情報を提供します。 Lesch-Nyhan symdrome: 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. 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. |fpv| ptc| qgc| hda| pte| iep| fjh| kac| zxf| iiy| gcy| uqz| sjn| owz| ect| hnz| ayn| iet| jpl| emk| pmj| vxj| ytq| fqd| hbx| oxg| jra| mub| tyy| ary| hgl| gfi| gmb| blh| ghj| nzm| cjs| jfq| pca| jsi| klx| bqr| ftw| cuj| rcb| nph| pgp| wqw| jej| vfv|