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Science 6 December 1974:
Vol. 186. no. 4167, pp. 934 - 935
DOI: 10.1126/science.186.4167.934
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Articles

Lesch-Nyhan Syndrome: Evidence for Abnormal Adrenergic Function

Stanley Rockson 1, Richard Stone 1, Martin Van Der Weyden 1, and William N. Kelley 1

1 Departments of Medicine and Biochemistry, Duke University Medical Center, Durham, North Carolina 27710

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 beta-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.


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