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

Authors
  • Lake, C R
  • Ziegler, M G
Type
Published Article
Journal
Science (New York, N.Y.)
Publication Date
May 20, 1977
Volume
196
Issue
4292
Pages
905–906
Identifiers
PMID: 860124
Source
Medline
License
Unknown

Abstract

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.

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