The discovery of objective indicators for recent epileptic seizures will help confirm the diagnosis of epilepsy and evaluate therapeutic effects. Past studies had shortcomings such as the inclusion of patients under treatment and those with various etiologies that could confound the analysis results significantly. We aimed to minimize such confounding effects and to explore the small molecule biomarkers associated with the recent occurrence of epileptic seizures using urine metabolomics. This is a multicenter prospective study. Subjects included pediatric patients aged 2 to 12 years old with new-onset, untreated epilepsy, who had had the last seizure within 1 month before urine collection. Controls included healthy children aged 2 to 12 years old. Those with underlying or chronic diseases, acute illnesses, or recent administration of medications or supplements were excluded. Targeted metabolome analysis of spot urine samples was conducted using gas chromatography (GC)- and liquid chromatography (LC)-tandem mass spectrometry (MS/MS). We enrolled 17 patients and 21 controls. Among 172 metabolites measured by GC/MS/MS and 41 metabolites measured by LC/MS/MS, only taurine was consistently reduced in the epilepsy group. This finding was subsequently confirmed by the absolute quantification of amino acids. No other metabolites were consistently altered between the two groups. Urine metabolome analysis, which covers a larger number of metabolites than conventional biochemistry analyses, found no consistently altered small molecule metabolites except for reduced taurine in epilepsy patients compared to healthy controls. Further studies with larger samples, subjects with different ages, expanded target metabolites, and the investigation of plasma samples are required.

中文翻译：

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探索新发、未经治疗的小儿癫痫的尿液代谢生物标志物：基于气相色谱和液相色谱质谱的代谢组学研究

发现近期癫痫发作的客观指标将有助于癫痫的诊断和评估治疗效果。过去的研究存在一些缺陷，例如纳入了正在接受治疗的患者和患有各种病因的患者，这可能会严重混淆分析结果。我们的目的是尽量减少这种混杂效应，并利用尿液代谢组学探索与最近发生的癫痫发作相关的小分子生物标志物。这是一项多中心前瞻性研究。受试者包括 2 至 12 岁的新发癫痫、未经治疗的儿科患者，他们最后一次癫痫发作是在尿液收集前 1 个月内。对照组包括 2 至 12 岁的健康儿童。患有基础病或慢性病、急性疾病或最近服用药物或补充剂的人被排除在外。使用气相色谱（GC）和液相色谱（LC）-串联质谱（MS/MS）对点尿样本进行靶向代谢组分析。我们招募了 17 名患者和 21 名对照者。在 GC/MS/MS 测量的 172 种代谢物和 LC/MS/MS 测量的 41 种代谢物中，只有牛磺酸在癫痫组中持续减少。随后通过氨基酸的绝对定量证实了这一发现。两组之间没有其他代谢物发生一致改变。尿液代谢组分析比传统的生化分析涵盖更多的代谢物，发现与健康对照相比，癫痫患者除了牛磺酸减少外，没有发现一致改变的小分子代谢物。需要对更大的样本、不同年龄的受试者、扩大的目标代谢物以及血浆样本的研究进行进一步的研究。