title: Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders.
abstract: The free fatty acid and total fatty acid profiles in plasma of nine patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, two with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and two with mild-type multiple acyl-CoA dehydrogenase (MAD-m) deficiency, were analyzed by gas chromatography-mass spectrometry. 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 omega 6), and 4,7-decadienoic acid (10:2 omega 3), all present almost exclusively in free form. The patients with VLCAD deficiency showed increases of mainly 5-tetradecenoic acid (14:1 omega 9) and to a minor extent 5-dodecenoic acid (12:1 omega 7), 5,8-tetradecadienoic acid (14:2 omega 6), and 7,10-hexadecadienoic acid (16:2 omega 6), in both the free and esterified fatty acid fraction. The MAD-m patients showed variable increases of all the unusual fatty acids present in MCAD- and VLCAD-deficient plasma. The 14:1 omega 9, 14:2 omega 6, and 16:2 omega 6 fatty acids were present mainly in the esterified form. Measurement of these fatty acids in plasma by the relatively simple method presented here provides a sensitive and specific aid in the diagnosis of acyl-CoA dehydrogenase deficiency disorders.
authors.affiliation: Department of Pediatrics, University Hospital, Leiden, The Netherlands.
authors.forename: W
authors.initials: W
authors.lastname: Onkenhout
authors.forename: V
authors.initials: V
authors.lastname: Venizelos
authors.forename: P F
authors.initials: PF
authors.lastname: van der Poel
authors.forename: M P
authors.initials: MP
authors.lastname: van den Heuvel
authors.forename: B J
authors.initials: BJ
authors.lastname: Poorthuis
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D002210:Caprylates / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003652:Decanoic Acids / Q000097:blood; D005229:Fatty Acids, Monounsaturated / Q000097:blood; D005230:Fatty Acids, Nonesterified / Q000097:blood; D005231:Fatty Acids, Unsaturated / Q000097:blood*; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D010084:Oxidation-Reduction
chemical_list: D002210:Caprylates; D003652:Decanoic Acids; D005229:Fatty Acids, Monounsaturated; D005230:Fatty Acids, Nonesterified; D005231:Fatty Acids, Unsaturated; C055444:4-decenoic acid; C031071:decanoic acid; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain; C031492:octanoic acid