Masahiko KimuraHye Ran YoonPornswan WasantYukitoshi TakahashiSeiji YamaguchiShimane University School of MedicineSeoul Medical Science InstituteMahidol UniversityGifu University2018-07-242018-07-242002-01-12Clinica Chimica Acta. Vol.316, No.1-2 (2002), 117-121000989812-s2.0-0036135289https://repository.li.mahidol.ac.th/handle/123456789/20089Background: A precise diagnosis of mitochondrial fatty acid beta-oxidation (FAO) disorders can be difficult as several enzymatic reactions are involved. Methods: Using 5 blood spots on filter paper, each 3 mm in diameter, octanoate, decanoate, cis-4-decenoic acid (C10:1) and cis-5-tetradecenoic acid (C14:1) were measured by one step transmethylation and gas chromatography-mass spectrometry (GC/MS). Results: In subjects with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency C10:1 was increased. C14:1 was increased in very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, and both were increased in multiple acyl CoA dehydrogenase (MAD) deficiency. Conclusions: Free fatty acids (FFAs) can be measured with a small amount of blood sample if selective ion monitoring (SIM) in GC/MS analysis is used. A single microtube was sufficient throughout the procedure prior to injection onto GC/MS. © 2002 Elsevier Science B.V. All rights reserved.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyMedicineArticleSCOPUS10.1016/S0009-8981(01)00741-0