Lesch-Nyhan syndrome: low dopamine-beta-hydroxylase activity and diminished sympathetic response to stress and posture

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Science  20 May 1977:
Vol. 196, Issue 4292, pp. 905-906
DOI: 10.1126/science.860124


Patients with Lesch-Nyhan syndrome with virtually no hypoxanthine phosphoribosyltransferase activity demonstrate significantly low plasma activity of dopamine-beta-hydroxylase but normal basal levels of norepinephrine. Under conditions of emotional or postural stress the plasma concentrations of norepinephrine in Lesch-Nyhan patients increased less than in a normal population.