Lesch-Nyhan Syndrome (LNS)

Lesch-Nyhan Syndrome, also known as hypoxanthine-guanine phosphoribosyltransferase deficiency, is related to hyperuricemia, hprt-related and disorder of purine metabolism, and has symptoms including vomiting, opisthotonus and abnormality of extrapyramidal motor function. An important gene associated with Lesch-Nyhan Syndrome is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways/superpathways are Metabolism and Metabolism of nucleotides. The drugs Dopamine and Ecopipam have been mentioned in the context of this disorder. Affiliated tissues include kidney and skin, and related phenotypes are spasticity and intellectual disability, mild