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Oral Sessions
Day 4, June 25（Wed.） 11:25-11:40
Room B (Maesato Center)
- 4B-O1-1125
Metabolomics Approaches for Organic Acidemias: Optimization of Derivatization Methods for Enhanced Biomarker Quantification and Accurate Diagnosis
(1NTU, 2Dept Pediatr NTUH, 3Dept Pediatr NTU, 4NTNU)
Yung-Cheng Jair1, Ni-Chung Lee2,3, Yi-Hsin Liu4, oPai-Shan Chen1
Organic acidemias are inherited metabolic disorders marked by abnormal organic acid accumulation, causing developmental delays and severe complications. Their nonspecific symptoms increase misdiagnosis risk. Of 65 identified types, 48 biomarkers exhibit diverse chemical properties, complicating GC-MS analysis due to complex sample preparation and derivatization, which can cause analyte loss and unintended transformations. To address this, we synthesized and quantified 48 biomarker derivatives using a two-step derivatization coupled to semi-auto solid phase extraction for absolute quantification. Alkaline oximation produced unexpected byproducts from formiminoglutamic acid, risking misdiagnosis. Silylation above 40°C degraded dicarboxylic acids by 20%–80%. Optimized conditions improved sensitivity (82%–116%), enabling 48-organic acid quantification in 42 minutes and identifying 38 subtypes. Reference ranges from 30 healthy individuals enhance diagnostic accuracy and minimize misdiagnosis risks.