Lake C R, Ziegler M G
Science. 1977 May 20;196(4292):905-6. doi: 10.1126/science.860124.
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.
几乎没有次黄嘌呤磷酸核糖基转移酶活性的莱施-奈恩综合征患者,其多巴胺-β-羟化酶的血浆活性显著降低,但去甲肾上腺素的基础水平正常。在情绪或体位应激状态下,莱施-奈恩综合征患者血浆中去甲肾上腺素浓度的升高幅度小于正常人群。