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- W134019745 abstract "We have reviewed the treatments employed to alleviate the different manifestations of the Lesch Nyhan syndrome, the adverse reactions related to these treatments, and the prospectives of future therapeutic approaches now under active research.Lesch Nyhan syndrome is an X linked inherited disorder of purine metabolism caused by the deficiency of the enzyme hypoxanthine guanine phosphoribosyltransferase (HPRT). Clinical features include overproduction of uric acid and a neurologic syndrome related to the severity of the enzyme defect.Treatment with xanthine oxidase inhibitors is effective for the control of the elevated renal excretion of uric acid, but there is no specific treatment for the neurologic symptoms. Due to the low frequency of the syndrome and to the incomplete understanding of the pathophysiologic mechanisms underlying the neurologic manifestations, the treatments employed are merely symptomatic." @default.
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- W134019745 date "2002-01-01" @default.
- W134019745 modified "2023-09-27" @default.
- W134019745 title "Tratamiento del síndrome de Lesch-Nyhan" @default.
- W134019745 doi "https://doi.org/10.33588/rn.3509.2002295" @default.
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