Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders

The free fatty acid and total fatty acid profiles in plasma of nine patients with medium-chain acyl-C0A dehydro-genase (MCAD) deficiency, two with Very-long-chain acyl-C0A dehydrogenase (VLCAD) deficiency and two with mild-type multiple acyl-C0A dehydrogenase (MAD-rn) deficiency, were analyzed by gas chromatog-raphy-mass spectrornetry. In the plasma of patients with MCAD deficiency we found increases of octanoic acid (8:0), decanoic acid (10:0), 4-decenoic acid (10:1 w6), and 4,7-decadienoic acid (10:2w3), all present almost exclu-sively in free form. The patients with VLCAD deficiency showed increases of mainly 5-tetradecenoic acid (14: 1(09) and to a minor extent 5-dodecenoic acid (12:lco7), 5,8-tetradecadienoic acid (14:2w6), and 7,10-hexadeca-dienoic acid (16:2w6), in both the free and esterified fatt