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 ?
Lesch-Nyhan disease is caused by a mutant gene on the X chromosome.
A single mutation in the gene that encodes an enzyme called hypoxanthine-guanine phosphoribosyl transferase, or HGPRT, is responsible for Lesch-Nyhan disease. In its mutant form, the enzyme does not function.
The unique program is designed to help fledgling physicians develop the interpersonal skills needed to elicit vital information directly from patients who are non-verbal, particularly those with neurodevelopmental disorders like cerebral palsy, Lesch-Nyhan disease, or spina bifida.
Uric acid overproduction is a characteristic of Lesch-Nyhan disease. Uric acid is a trioxypurine without protons on its carbon atoms; therefore, it is [sup.1]H-NMR invisible.
In the patients with inborn errors of purine metabolism, [sup.1]H-NMR spectroscopy of urine samples led to the diagnosis in all patients with PNP deficiency, xanthinuria, molybdenum cofactor deficiency, Lesch-Nyhan disease, ADA deficiency, and adenylosuccinate lyase deficiency.