Lesch-Nyhan syndrome: low dopamine-beta-hydroxylase activity and diminished sympathetic response to stress and posture.
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.
D000293:Adolescent; D000328:Adult; D002648:Child; D004299:Dopamine beta-Hydroxylase / Q000097:blood / Q000172:deficiency*; D006339:Heart Rate; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000097:blood / Q000201:enzymology*; D009638:Norepinephrine / Q000097:blood*; D011187:Posture; D013315:Stress, Psychological / Q000502:physiology*; D013564:Sympathetic Nervous System / Q000378:metabolism*
D004299:Dopamine beta-Hydroxylase; D009638:Norepinephrine