/Lesch-Nyhan syndrome

Lesch-Nyhan syndrome

Rare Disease

MONDO:0010298

Also Known As

HG-PRT deficiencyHPRT complete deficiencyHPRT deficiency grade IVLesch - Nyhan syndromeLesch Nyhan SyndromeLesch-Nyhan syndromeLesch-Nyhan syndrome, X-linked recessiveX-linked hyperuricemiaX-linked hyperuricemia (disorder) [ambiguous]complete hypoxanthine-guanine phosphoribosyltransferase deficiencydeficiency of IMP pyrophosphorylasehypoxanthine guanine phosphoribosyltransferase complete deficiencyhypoxanthine guanine phosphoribosyltransferase deficiency, grade IVHPRT deficiencyHPRT deficiency, completeHPRT deficiency, neurologic variantHprt1 deficiencyLNSLesch Nyhan diseaseLesch Nyhan syndromeLesch-Nyhan syndrome, neurologic varianthypoxanthine guanine phospho-ribosyltransferase 1 deficiencyhypoxanthine guanine phosphoribosyltransferase 1 deficiencyhypoxanthine-guanine-phosphoribosyltransferase deficiency (& [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.