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。 Urine neopterin (N) and biopterin (B) were measured using high pressure liquid phase and confirmed by retention time and mass spectrometry analysis. The control group of 58 patients with normal N / B between 2.25 ~ 0.66, urinary N excretion directly related to age, infants under 2 months the highest, and decreased with age. Of the 27 patients diagnosed with phenylketonuria (PKU), 4 had a significantly higher N / B than normal, suggesting a lack of dihydrobiopterin synthase, with significant hypotonia in 3 and 1 in Temporary lack of. This article emphasizes the early detection of atypical PKU in the clinical importance.