尿液新喋呤和生物喋呤在鉴别苯丙酮尿症类型中的应用  

MEASUREMENT OF URINARY NEOPTERIN AND BIOPTERIN WITH HPLC AND ITS APPLICATION TO SCREENING OF PKU VARIANTS

作　　者：潘星时[1] 张雅芬[1] 郭华[1] 陈瑞冠[1] 胡克季[2] 陆伟民[2] 

机构地区：[1]上海市儿科研究所 [2]复旦大学测试中心

出　　处：《遗传与疾病》1989年第1期15-17,64-65,共3页

摘　　要：应用高压液相测定尿液新喋呤(N)及生物喋呤(B),并根据潴留时间及质谱分析确认。对照组58例N/B正常均值在2.25～0.66之间,尿中N的排出直接与年龄有关,2个月以下婴儿最高,并随年龄增长而减少。在27例确诊为苯丙酮尿症(PKU)的患者中,4例N/B明显高于正常,提示为二氢生物喋呤合成酶缺乏,其中3例有明显肌张力低下,1例则为暂时性缺乏。本文强调及早检出非典型PKU在临床上的重要性。The levels of urinary neopterin (N) and biopterin (B) were measured with HPLC (peaks were confirmed by respective retention times and Mass Spectrum analysis) . The normal average ratios of N/B in various age groups were between 0.66 to 2.25.The urinary excretion of N was directly related to age with the highest in the babies below 2 months old, and it decreased gradually as the children grew up. 27 cases of PKU were screened for atypical PKU, among them 4 cases with dramatic high N/B values were diagnosed as DHBS deficiency, in which three patiets had profound hypotonia. The other one was diagnosed as transient DHBS deficiency. It is emphasized that early screening for atypical PKU is important clinically.

关 键 词：新喋呤 生物喋呤 苯丙酮尿症 

分 类 号：R695[医药卫生—泌尿科学]