Lesch-Nyhan Syndrome: Evidence for Abnormal Adrenergic Function

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Science  06 Dec 1974:
Vol. 186, Issue 4167, pp. 934-935
DOI: 10.1126/science.186.4167.934


Subjects with the Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase deficiency with self-mutilation) exhibit an apparently unique pattern of adrenergic dysfunction characterized by elevated plasma dopamine β-hydroxylase activity and an absence of pressor response to acute sympathetic stimulation. Patients with a partial deficiency of hypoxanthine-guanine phosphoribosyltransferase without self-mutilation do not exhibit these abnormalities of adrenergic function.