Lesch-Nyhan Syndrome: Low Dopamine-β-Hydroxylase Activity and Diminished Sympathetic Response to Stress and Posture
- 20 May 1977
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 196 (4292) , 905-906
- https://doi.org/10.1126/science.860124
Abstract
Patients with Lesch-Nyhan syndrome with virtually no hypoxanthine phosphoribosyltransferase activity demonstrate significantly low plasma activity of dopamine-β-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.Keywords
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