Lesch-Nyhan syndrome
Lesch-Nyhan syndrome
Definition
Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.
Also known as complete hypoxanthine-guanine phosphoribosyltransferase deficiency, deficiency of IMP pyrophosphorylase, HPRT complete deficiency, HPRT deficiency grade IV, hypoxanthine guanine phosphoribosyltransferase complete deficiency, hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV, Lesch Nyhan Syndrome, Lesch-Nyhan syndrome, Lesch-Nyhan syndrome, X-linked recessive, X-linked hyperuricemia, X-linked hyperuricemia (disorder) [ambiguous] — per MONDO