Lesch-Nyhan syndrome
MONDO:0010298Lesch-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: HPRT complete deficiency, HPRT deficiency grade IV, Lesch Nyhan Syndrome, Lesch-Nyhan syndrome, Lesch-Nyhan syndrome, X-linked recessive, X-linked hyperuricemia, X-linked hyperuricemia (disorder) [ambiguous], complete hypoxanthine-guanine phosphoribosyltransferase deficiency
1 clinical trial for this condition and its sub-types, 1 tagged with Lesch-Nyhan syndrome itself.
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