Organic acids in the second morning urine in a healthy Swiss paediatric population
Organic acids in the second morning urine in a healthy Swiss paediatric population
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DOI：
10.1515/cclm.2003.248
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发表时间：
2003-01-01
影响因子：
6.8
通讯作者：
Bachmann, C
中科院分区：
文献类型：
--
作者：
Boulat, O;Gradwohl, M;Bachmann, C
有机酸分析用于早期检测/排除和跟踪氨基酸和有机酸代谢的遗传性疾病。尿有机酸浓度在417名健康的高加索儿童（1天至17岁）进行了测定后，液-固萃取，作为其三甲基甲硅烷基衍生物，通过气相色谱和质谱。大多数有机酸的浓度调整肌酐往往随着年龄的增长而下降。除年龄较大组的克雷布斯循环中间体外，性别间无差异。在新生儿中，新生儿肾脏的不成熟导致与肌酐相关的有机酸水平变化更大。每个年龄组的受试者数量较少（n = 36-52），导致用于决策的置信区间的95%置信区间较大。在使用数据排除或诊断疾病时必须考虑到这一点。
Organic acid analysis is used for the early detection/exclusion and for the followup of inherited disorders of amino acid and organic acid metabolism. Urinary organic acid concentrations in 417 healthy Caucasian children (1 day to 17 years of age) were determined after liquid solid extraction, as their trimethylsilyl derivatives, by gas chromatography and mass spectrometry. Concentrations of most of the organic acids adjusted for creatinine tend to decrease with age. No differences were found between gender except for the Krebs cycle intermediates in the older age groups. In neonates, the immaturity of the neonatal kidney led to a much larger variation of organic acid levels when related to creatinine. The low number of subjects (n = 36-52) per age class resulted in large 95% confidence intervals of the percentiles used for decision. This must be taken into account when using the data for exclusion or diagnosis of disorders.