Lesch–Nyhan syndrome
id:
lesch-nyhan-syndrome-181-2320152
title:
Lesch–Nyhan syndrome
text:
Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome. LNS affects about 1 in 380,000 live births. The disorder was first recognized and clinically characterized by American medical student Michael Lesch and his mentor, pediatrician William Nyhan, at Johns Hopkins. The HGPRT deficiency causes a build-up of uric acid i
brand slug:
wiki
category slug:
encyclopedia
description:
Rare genetic disorder
original url:
https://en.wikipedia.org/wiki/Lesch%E2%80%93Nyhan_syndrome
date created:
2004-10-29T20:00:26Z
date modified:
2024-09-05T16:51:19Z
main entity:
{"identifier":"Q727436","url":"https://www.wikidata.org/entity/Q727436"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/0/0c/Hyperuricemia_with_Mental_Retardation_4.jpg","width":762,"height":1329}
fields total:
13
integrity:
16