PDF(Pubmed)
Abstract：
Orotic acid (OA) is an intermediate metabolite of pyrimidine nucleotide biosynthesis and represents a minor diet constituent. The measurement of urinary orotic acid is useful in confirming the diagnosis of hereditary metabolic diseases. Moreover, it could be of interest to know how the physiological concentration of this metabolite changes in relation to different conditions of clinical normality. The purpose of this study was to determine the orotic acid concentration in the urine of healthy patients, to observe normal oroticuria and to evaluate if the expression of pyrimidine intermediate biosynthesis differs between healthy males and females. The orotic acid concentration in urine was performed via the ICH M10-validated analytical method. Unexpectedly, females showed a greater oroticuria than males in pediatric age (0-10); conversely, we did not find significant differences until 70 years of age. The LC-MS/MS method was suitable for use in the differential diagnosis of hereditary metabolic disease and metabolic monitoring of anticancer drug-induced toxicity. The analytical protocol was found to be rapid and ideal, and was used in the routine analysis of a clinical chemistry laboratory. The biochemical aspects related to the expression of pyrimidine biosynthesis should be further investigated in light of the obtained results.
摘要：
鸟酸(OA)是嘧啶核苷酸生物合成的中间代谢物,并且代表次要饮食成分。尿乳清酸的测量有助于确认遗传性代谢疾病的诊断。此外，了解这种代谢物的生理浓度如何相对于临床正常的不同条件而变化可能是很有意义的。这项研究的目的是确定健康患者尿液中的乳清酸浓度，观察正常的尿，并评估嘧啶中间生物合成的表达在健康男性和女性之间是否存在差异。尿液中的乳清酸浓度通过ICHM10验证的分析方法进行。出乎意料的是,在儿科年龄（0-10岁），女性比男性表现出更大的口尿症；相反，我们直到70岁才发现显著差异.LC-MS/MS方法适用于遗传代谢性疾病的鉴别诊断和抗癌药物诱导毒性的代谢监测。分析方案被发现是快速和理想的，并用于临床化学实验室的常规分析。应根据获得的结果进一步研究与嘧啶生物合成表达相关的生化方面。
