Naylor E W, Cederbaum S D
J Inherit Metab Dis. 1981;4(4):207-10. doi: 10.1007/BF02263653.
A high-performance liquid-chromatographic method was used to separate and identify uracil, uridine, pseudouridine and orotic acid after preliminary extraction in two patients (McKusick 20780). Urinary uracil excretion was 10-35 times normal in both patients with arginase deficiency. Uridine and orotic acid, not normally detected, were excreted in large amounts and were directly influenced by protein intake. Their excretions were correlated with urinary arginine excretion. Urinary uracil levels remained consistently high and showed minimal variations with increased protein intake or urinary arginine levels. The measurement of urinary pyrimidines appears to be useful for the detection, differential diagnosis and dietary monitoring of patients with urea cycle disorders. The data presented extends this observation to include patients with arginase deficiency.
采用高效液相色谱法，对两名患者（麦库西克20780）进行初步提取后，分离并鉴定了尿嘧啶、尿苷、假尿苷和乳清酸。两名精氨酸酶缺乏症患者的尿嘧啶排泄量均为正常水平的10至35倍。正常情况下检测不到的尿苷和乳清酸大量排出，且直接受蛋白质摄入量的影响。它们的排泄量与尿精氨酸排泄量相关。尿嘧啶水平持续居高不下，蛋白质摄入量增加或尿精氨酸水平升高时变化极小。尿嘧啶的测定似乎有助于尿素循环障碍患者的检测、鉴别诊断和饮食监测。所呈现的数据将这一观察结果扩展至包括精氨酸酶缺乏症患者。
