LESCH-NYHAN SYNDROME - EVIDENCE FOR ABNORMAL ADRENERGIC FUNCTION SCIENCE Rockson, S., Stone, R., VANDERWE, M., Kelley, W. N. 1974; 186 (4167): 934-935

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 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.

View details for Web of Science ID A1974U773500024

View details for PubMedID 4469689