Treatment of Lesch–Nyhan disease with S-adenosylmethionine: experience with five young Malaysians, including a girl
BC Chen, S Balasubramaniam, IN McGown… - Brain and …, 2014 - Elsevier
Abstract Background: Lesch–Nyhan disease (LND) is a rare X-linked recessive
neurogenetic disorder caused by deficiency of the purine salvage enzyme hypoxanthine
phosphoribosyltransferase (HPRT, EC 2.4. 2.8) which is responsible for recycling purine
bases into purine nucleotides. Affected individuals have hyperuricemia leading to gout and
urolithiasis, accompanied by a characteristic severe neurobehavioural phenotype with
compulsive self-mutilation, extrapyramidal motor disturbances and cognitive impairment …
neurogenetic disorder caused by deficiency of the purine salvage enzyme hypoxanthine
phosphoribosyltransferase (HPRT, EC 2.4. 2.8) which is responsible for recycling purine
bases into purine nucleotides. Affected individuals have hyperuricemia leading to gout and
urolithiasis, accompanied by a characteristic severe neurobehavioural phenotype with
compulsive self-mutilation, extrapyramidal motor disturbances and cognitive impairment …
