Lesch-Nyhan disease


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Lesch-Nyhan disease

(lĕsh′nī′ăn)
[Michael Lesch, b. 1939, William Leo Nyhan, b. 1926, U.S. pediatricians]
An X-linked recessive metabolic disease, in which mental retardation, aggressive behavior, self-mutilation, and renal failure are exhibited by affected boys. The disease is caused by faulty purine metabolism, resulting in excessive uric acid levels in the body.
References in periodicals archive ?
Protocol PSY102 is a multicenter, double-blind, randomized three-way crossover study to assess the efficacy and safety of ecopipam in subjects with Lesch-Nyhan Disease having moderate-to-severe self-injurious behaviors.
People with Lesch-Nyhan disease cannot salvage purines.
1]H-NMR spectrum in all samples from patients with XDH deficiency, molybdenum cofactor deficiency, and Lesch-Nyhan disease.
Nyhan joining the clinical investigators studying ecopipam in patients with Lesch-Nyhan Disease.
We are very excited to be starting our clinical trial with ecopipam in patients with Lesch-Nyhan Disease.