BACKGROUND: 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.
BACKGROUND: 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.
Authors: Yu Hong Lin; Jennifer A Hanson; Sarah E Strandjord; Nicholas M Salem; Michael N Dretsch; Mark D Haub; Joseph R Hibbeln Journal: Lipids Date: 2014-07-02 Impact factor: 1.880
Authors: Helena Beatriz Ferreira; Inês M S Guerra; Tânia Melo; Hugo Rocha; Ana S P Moreira; Artur Paiva; M Rosário Domingues Journal: Anal Bioanal Chem Date: 2022-07-15 Impact factor: 4.478
Authors: Anna Peters; Philipp Rabe; Petra Krumbholz; Hermann Kalwa; Robert Kraft; Torsten Schöneberg; Claudia Stäubert Journal: Cell Commun Signal Date: 2020-02-26 Impact factor: 5.712