Lesch-Nyhan Syndrome: Evidence for Abnormal Adrenergic Function
- 6 December 1974
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 186 (4167) , 934-935
- https://doi.org/10.1126/science.186.4167.934
Abstract
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.Keywords
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