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Lesch-Nyhan syndrome

Treatment: No specific treatment exists for Lesch-Nyhan syndrome. Allopurinol has been tried, and although it decreases the uric acid concentrations, it does not improve the neurological outcome. Some symptoms may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol. Text Continues Below Recent advances in recombinant DNA techniques have allowed the gene responsible for the production of HGP to be cloned. Attempts will be made in the future to insert this gene into a patient's genetic material to determine if it will correct the metabolic defect. Expectations (prognosis): The outcome is likely to be poor, even with attempts to treat the condition. Complications: Severe, progressive disability is likely. Calling your health care provider: Call your health care provider if signs of this illness appear in your child or if there is a history of Lesch-Nyhan syndrome in your family.

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