Add time:08/27/2019 Source:sciencedirect.com
Plasma free fatty acid profiles from patients suffering from various mitochondrial ß-oxidation deficiencies were analyzed by gas chromatography–mass spectrometry. cis-4-Decenoic acid (10:1n-6) in medium-chain acyl-CoA dehydrogenase deficiency and cis-5-tetradecenoic acid (14:1n-9) in very-long-chain and 3-hydroxy-long chain acyl-CoA dehydrogenase deficiencies are characteristic of these diseases. In addition, patients with 3-hydroxy-long chain acyl-CoA dehydrogenase deficiency showed a specific increase of 3-hydroxy-long chain fatty acids. The study of plasma free fatty acids is an easy and useful methodology for the diagnostic approach of some mitochondrial ß-oxidation deficiencies, allowing us to establish a quick differentiation between medium- and long-chain defects.
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