Lesch-Nyhan Syndrome

Choreoathetosis self-mutilation hyperuricemia syndrome; Complete HPRT deficiency; Complete hypoxanthine-guanine phosphoribosyltransferase deficiency; HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency; hypoxanthine phosphoribosyltransferse (HPRT) deficiency; Juvenile gout, choreoathetosis, mental retardation syndrome; juvenile hyperuricemia syndrome; Lesch-Nyhen Syndrome; LNS; primary hyperuricemia syndrome; Total HPRT deficiency; Total hypoxanthine-guanine phosphoribosyl transferase deficiency; X-linked primary hyperuricemia; X-linked uric aciduria enzyme defect

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: the gene is carried by the mother and passed on to her son. LNS is present at birth in baby boys. Patients have severe mental and physical problems throughout life. The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderat ...