Lesch-Nyhan syndrome: evidence for abnormal adrenergic function.
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.
D000293:Adolescent; D001794:Blood Pressure; D002648:Child; D003080:Cold Temperature; D004299:Dopamine beta-Hydroxylase / Q000097:blood*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood* / Q000172:deficiency; D007926:Lesch-Nyhan Syndrome / Q000097:blood / Q000503:physiopathology*; D013564:Sympathetic Nervous System / Q000503:physiopathology*
D004299:Dopamine beta-Hydroxylase; D007041:Hypoxanthine Phosphoribosyltransferase