Science · 1976 · 58 citations · 29 references
Life SciencesNeurologyNeuroscienceMolecular NeuroscienceNeurochemistryNeuropsychiatryMonoamine NeurochemistryCatecholamine Regulation Of MetabolismHypoxanthine-guanine Phosphoribosyltransferase DeficiencyLesch-nyhan SyndromeMonoamine DegradationMonoamine MetabolismMonoamine Oxidase InvolvementMonoamine Oxidases
The Lesch-Nyhan syndrome in humans is characterized by lack of hypoxanthine phosphoribosyltransferase activity and neurologic abnormalities that suggest changes in catecholamine metabolism. Monoamine oxidase, which degrades biogenic amines, has decreased activity in noradrenergic murine neuroblastoma cell lines lacking hypoxanthine phosphoribosyltransferase activity and in skin fibroblasts from patients with the Lesch-Nyhan syndrome.
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