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Related Subjects: |Hyperuricaemia |Acute and Chronic Gout |Allopurinol |Rasburicase |Lesch-Nyhan syndrome |Autosomal Dominant |Autosomal Recessive |X Linked Recessive
Lesch-Nyhan Syndrome (LNS) is a rare inherited disorder of purine metabolism due to the deficiency of an enzyme called hypoxanthine-guanine phosphoribosyltransferase (HPRT). This enzyme deficiency leads to the overproduction of uric acid, a waste product normally excreted in urine, causing a range of serious health problems, including severe neurological symptoms and self-injurious behaviors.