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Article ; Online: Exploration of urine metabolic biomarkers for new-onset, untreated pediatric epilepsy: A gas and liquid chromatography mass spectrometry-based metabolomics study.

Akiyama, Tomoyuki / Saigusa, Daisuke / Inoue, Takushi / Tokorodani, Chiho / Akiyama, Mari / Michiue, Rie / Mori, Atsushi / Hishinuma, Eiji / Matsukawa, Naomi / Shibata, Takashi / Tsuchiya, Hiroki / Kobayashi, Katsuhiro

Brain & development

2024  Volume 46, Issue 4, Page(s) 180–186

Abstract: Objective: 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 ... ...

Abstract Objective: 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.
Methods: 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).
Results: 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.
Conclusions: 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.
MeSH term(s) Humans ; Child ; Child, Preschool ; Tandem Mass Spectrometry ; Liquid Chromatography-Mass Spectrometry ; Prospective Studies ; Metabolome ; Epilepsy/diagnosis ; Seizures ; Taurine ; Biomarkers
Chemical Substances Taurine (1EQV5MLY3D) ; Biomarkers
Language English
Publishing date 2024-01-03
Publishing country Netherlands
Document type Multicenter Study ; Journal Article
ZDB-ID 604822-5
ISSN 1872-7131 ; 0387-7604
ISSN (online) 1872-7131
ISSN 0387-7604
DOI 10.1016/j.braindev.2023.12.004
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