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.
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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.
To evaluate whether patients with Lesch-Nyhan Disease had a peculiar sensitivity to the drug, the safety and tolerability of the doses used in this Phase 3 study were first tested in an open label study in a small group of these patients.
Psyadon Pharmaceuticals, Inc. Announces First Patients Enrolled in Phase 3 Study of Ecopipam for the Orphan Indication Lesch-Nyhan Disease
People with Lesch-Nyhan disease cannot salvage purines.
One of the manifestations of Lesch-Nyhan disease is unmistakable.
First self
1]H-NMR spectrum in all samples from patients with XDH deficiency, molybdenum cofactor deficiency, and Lesch-Nyhan disease.
[sup.1]H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism
Nyhan joining the clinical investigators studying ecopipam in patients with Lesch-Nyhan Disease.
Psyadon Pharmaceuticals, Inc. Announces Dr. William Nyhan's Participation in the Clinical Trial of Ecopipam in Lesch-Nyhan Disease
today announced that the United States Food and Drug Administration (FDA) has accepted its Investigational New Drug Application (IND) to study ecopipam in patients with Lesch-Nyhan Disease (LND).
We are very excited to be starting our clinical trial with ecopipam in patients with Lesch-Nyhan Disease.
Psyadon Pharmaceuticals, Inc. Announces Regulatory Milestones and the Initiation of a Clinical Trial of Ecopipam in Lesch-Nyhan Disease

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