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Volumn 44, Issue 3, 1998, Pages 463-471

Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid β-oxidation disorders

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACYL COENZYME A;

EID: 0031914110     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/44.3.463     Document Type: Article
Times cited : (88)

References (36)
  • 1
    • 0000834937 scopus 로고
    • Disorders of fatty acid oxidation
    • Fernandes J, Saudubray JM, van den Berghe G, eds. Berlin: Springer-Verlag
    • Stanley CA. Disorders of fatty acid oxidation. In: Fernandes J, Saudubray JM, van den Berghe G, eds. Inborn metabolic diseases diagnosis and treatment, 2nd ed. Berlin: Springer-Verlag, 1995: 133-43.
    • (1995) Inborn Metabolic Diseases Diagnosis and Treatment, 2nd Ed. , pp. 133-143
    • Stanley, C.A.1
  • 2
    • 0028040626 scopus 로고
    • Genetic disorders of mitochondrial fatty acid oxidation
    • Stanley CA, Hale DE. Genetic disorders of mitochondrial fatty acid oxidation. Curr Opin Pediatr 1994;6:476-81.
    • (1994) Curr Opin Pediatr , vol.6 , pp. 476-481
    • Stanley, C.A.1    Hale, D.E.2
  • 3
    • 0026718314 scopus 로고
    • Fatty acid oxidation disorders: A new class of metabolic diseases
    • Hale DE, Bennett MJ. Fatty acid oxidation disorders: a new class of metabolic diseases. J Pediatr 1992;121:1-11.
    • (1992) J Pediatr , vol.121 , pp. 1-11
    • Hale, D.E.1    Bennett, M.J.2
  • 4
    • 0000576457 scopus 로고
    • Mitochondrial fatty acid oxidation disorders
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
    • Roe CR, Coates PM. Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 7th ed. New York: McGraw-Hill, 1995;1501-33.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Ed. , pp. 1501-1533
    • Roe, C.R.1    Coates, P.M.2
  • 6
    • 0031018401 scopus 로고    scopus 로고
    • Quantitative profiling of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography
    • Costa CG, Struys EA, Bootsma A, ten Brink HJ, Dorland L, Tavares de Almeida I, et al. Quantitative profiling of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res 1997;38:173-82.
    • (1997) J Lipid Res , vol.38 , pp. 173-182
    • Costa, C.G.1    Struys, E.A.2    Bootsma, A.3    Ten Brink, H.J.4    Dorland, L.5    De Tavares Almeida, I.6
  • 7
    • 0024344870 scopus 로고
    • Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood and tissue
    • Millington DS, Norwood DL, Kodo N, Roe CR, Inove F. Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood and tissue. Anal Biochem 1989;180:331-9.
    • (1989) Anal Biochem , vol.180 , pp. 331-339
    • Millington, D.S.1    Norwood, D.L.2    Kodo, N.3    Roe, C.R.4    Inove, F.5
  • 8
    • 0025129387 scopus 로고
    • Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
    • Millington DS, Kodo N, Norwood DL, Roe CR. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherited Metab Dis 1990;13:321-4.
    • (1990) J Inherited Metab Dis , vol.13 , pp. 321-324
    • Millington, D.S.1    Kodo, N.2    Norwood, D.L.3    Roe, C.R.4
  • 9
    • 0028931461 scopus 로고
    • Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders in lymphocytes
    • Brivet M, Slama A, Saudubray JM, Legrand A, Lemonnier A. Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders in lymphocytes. Ann Clin Biochem 1995;32:154-9.
    • (1995) Ann Clin Biochem , vol.32 , pp. 154-159
    • Brivet, M.1    Slama, A.2    Saudubray, J.M.3    Legrand, A.4    Lemonnier, A.5
  • 10
    • 0025766779 scopus 로고
    • Octanoate and palmitate β-oxidation in human leukocytes: Implications for the rapid diagnosis of fatty acid β-oxidation disorders
    • Wanders RJA, IJlst L, van Elk E, de Klerk JBC, Przyrembel H. Octanoate and palmitate β-oxidation in human leukocytes: implications for the rapid diagnosis of fatty acid β-oxidation disorders. J Inherited Metab Dis 1991;14:317-20.
    • (1991) J Inherited Metab Dis , vol.14 , pp. 317-320
    • Wanders, R.J.A.1    IJlst, L.2    Van Elk, E.3    De Klerk, J.B.C.4    Przyrembel, H.5
  • 11
    • 0023155640 scopus 로고
    • Complementary analysis of fatty acid oxidation disorders
    • Moon A, Rhead WJ. Complementary analysis of fatty acid oxidation disorders. J Clin Invest 1987;79:59-64.
    • (1987) J Clin Invest , vol.79 , pp. 59-64
    • Moon, A.1    Rhead, W.J.2
  • 12
    • 0028950214 scopus 로고
    • Evidence for intermediate channeling in mitochondrial beta-oxidation
    • Nada MA, Rhead WJ, Sprecher H, Schulz H, Roe CR. Evidence for intermediate channeling in mitochondrial beta-oxidation. J Biol Chem 1995;270:530-5.
    • (1995) J Biol Chem , vol.270 , pp. 530-535
    • Nada, M.A.1    Rhead, W.J.2    Sprecher, H.3    Schulz, H.4    Roe, C.R.5
  • 13
    • 0028931890 scopus 로고
    • Fatty acid oxidation in peripheral blood cells: Characterization and use for the diagnosis of defects of fatty acid oxidation
    • Schaefer J, Pourfarzam M, Bartlett K, Jackson S, Turnbull DM. Fatty acid oxidation in peripheral blood cells: characterization and use for the diagnosis of defects of fatty acid oxidation. Pediatr Res 1995;37:354-60.
    • (1995) Pediatr Res , vol.37 , pp. 354-360
    • Schaefer, J.1    Pourfarzam, M.2    Bartlett, K.3    Jackson, S.4    Turnbull, D.M.5
  • 14
    • 0027326240 scopus 로고
    • A simple, straightforward assay for long-chain 3-hydroxyacyl-CoA dehydrogenase based on the use of N-ethylmaleimide: Potential for pre and postnatal diagnosis
    • IJlst L, Wanders RJA. A simple, straightforward assay for long-chain 3-hydroxyacyl-CoA dehydrogenase based on the use of N-ethylmaleimide: potential for pre and postnatal diagnosis. J Inherited Metab Dis 1993;16:568-70.
    • (1993) J Inherited Metab Dis , vol.16 , pp. 568-570
    • IJlst, L.1    Wanders, R.J.A.2
  • 15
    • 0027404491 scopus 로고
    • Very long-chain acyl-Coa dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts
    • Bertrand C, Largilliere C, Zabot MT, Mathieu M, Vianey-Saban C. Very long-chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim Biophys Acta 1993;1180:327-9.
    • (1993) Biochim Biophys Acta , vol.1180 , pp. 327-329
    • Bertrand, C.1    Largilliere, C.2    Zabot, M.T.3    Mathieu, M.4    Vianey-Saban, C.5
  • 16
    • 0025010623 scopus 로고
    • Molecular basis of medium-chain acyl-coenzyme A dehydrogenase deficiency
    • Yokoda I, Indo Y, Coates PM, Tanaka K. Molecular basis of medium-chain acyl-coenzyme A dehydrogenase deficiency. J Clin Invest 1990;86:1000-3.
    • (1990) J Clin Invest , vol.86 , pp. 1000-1003
    • Yokoda, I.1    Indo, Y.2    Coates, P.M.3    Tanaka, K.4
  • 17
    • 0029835610 scopus 로고    scopus 로고
    • Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein α subunit gene
    • IJlst L, Ruiter JPN, Hoovers JMN, Jakobs ME, Wanders RJA. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein α subunit gene. J Clin Invest 1996;98:1028-33.
    • (1996) J Clin Invest , vol.98 , pp. 1028-1033
    • IJlst, L.1    Ruiter, J.P.N.2    Hoovers, J.M.N.3    Jakobs, M.E.4    Wanders, R.J.A.5
  • 18
    • 0025858442 scopus 로고
    • Medium and long-chain 3-hydroxymonocarboxylic acids: Analysis by gas chromatography combined with mass spectrometry
    • Dorland L, Ketting D, Bruinvis L, Duran M. Medium and long-chain 3-hydroxymonocarboxylic acids: analysis by gas chromatography combined with mass spectrometry. Biomed Chromatogr 1991;5: 161-4.
    • (1991) Biomed Chromatogr , vol.5 , pp. 161-164
    • Dorland, L.1    Ketting, D.2    Bruinvis, L.3    Duran, M.4
  • 24
    • 0015935414 scopus 로고
    • Acylation with bis (acylamides). N-Methyl-bis (trifluoroacetamide) and bis (trifluoroacetamide) two new reagents for trifluoroacetylation
    • Donike M. Acylation with bis (acylamides). N-Methyl-bis (trifluoroacetamide) and bis (trifluoroacetamide) two new reagents for trifluoroacetylation. J Chromatogr 1973;78:273-9.
    • (1973) J Chromatogr , vol.78 , pp. 273-279
    • Donike, M.1
  • 25
    • 0000116115 scopus 로고
    • Preparation and gas chromatography of highly volatile trifluoroacetylated carbohydrates using N-methyl bis (trifluoroacetamide)
    • Sullivan JE, Schewe LR. Preparation and gas chromatography of highly volatile trifluoroacetylated carbohydrates using N-methyl bis (trifluoroacetamide). J Chromatogr Sci 1977:15:196-7.
    • (1977) J Chromatogr Sci , vol.15 , pp. 196-197
    • Sullivan, J.E.1    Schewe, L.R.2
  • 26
    • 0020563401 scopus 로고
    • Selective silylation using tert-butyldimethylsilyl reagents. Their use in the quantification of fatty acids
    • Woollard PM. Selective silylation using tert-butyldimethylsilyl reagents. Their use in the quantification of fatty acids. Biomed Mass Spectrom 1983;10:143-54.
    • (1983) Biomed Mass Spectrom , vol.10 , pp. 143-154
    • Woollard, P.M.1
  • 27
    • 0024584030 scopus 로고
    • Simultaneous gas chromatography of volatile and non-volatile carboxylic acids as tert-butyldimethylsilyl derivatives
    • Kim YR, Hahn MK, Zlatkis A, Horning EC, Middleditch BS. Simultaneous gas chromatography of volatile and non-volatile carboxylic acids as tert-butyldimethylsilyl derivatives. J Chromatogr 1989; 468:289-301.
    • (1989) J Chromatogr , vol.468 , pp. 289-301
    • Kim, Y.R.1    Hahn, M.K.2    Zlatkis, A.3    Horning, E.C.4    Middleditch, B.S.5
  • 28
    • 0021763961 scopus 로고
    • Use of t-butyldimethylsilylation in the gas chromatographic/mass spectrometric analysis of physiologic compounds found in plasma using electron impact ionization
    • Schwenk WF, Berg PJ, Beaufrere B, Miles JM, Haymond MR. Use of t-butyldimethylsilylation in the gas chromatographic/mass spectrometric analysis of physiologic compounds found in plasma using electron impact ionization. Anal Biochem 1984;141:101-9.
    • (1984) Anal Biochem , vol.141 , pp. 101-109
    • Schwenk, W.F.1    Berg, P.J.2    Beaufrere, B.3    Miles, J.M.4    Haymond, M.R.5
  • 29
    • 0016029344 scopus 로고
    • Identification of 2-hydroxy fatty acids in complex mixtures of fatty acid methyl esters by mass chromatography
    • Laine RA, Young ND, Gerber JN, Sweeley CC. Identification of 2-hydroxy fatty acids in complex mixtures of fatty acid methyl esters by mass chromatography. Biomed Mass Spectrom 1974;1:10-4.
    • (1974) Biomed Mass Spectrom , vol.1 , pp. 10-14
    • Laine, R.A.1    Young, N.D.2    Gerber, J.N.3    Sweeley, C.C.4
  • 30
    • 0000239374 scopus 로고
    • Chemical derivatization in gas chromatography
    • Drozo J. Chemical derivatization in gas chromatography. J Chromatogr 1975;113:303-56.
    • (1975) J Chromatogr , vol.113 , pp. 303-356
    • Drozo, J.1
  • 31
    • 0022542560 scopus 로고
    • Analysis of dihydroxyeicosatetraenoic acids by gas chromatography-mass spectrometry
    • Mallet AI, Barr RM, Newton JA. Analysis of dihydroxyeicosatetraenoic acids by gas chromatography-mass spectrometry. J Chromatogr Biomed Appl 1986;378:194-200.
    • (1986) J Chromatogr Biomed Appl , vol.378 , pp. 194-200
    • Mallet, A.I.1    Barr, R.M.2    Newton, J.A.3
  • 32
    • 0028197523 scopus 로고
    • The changing face of disorders of fatty acid oxidation
    • Vockley J. The changing face of disorders of fatty acid oxidation. Mayo Clin Proc 1994;69:249-57.
    • (1994) Mayo Clin Proc , vol.69 , pp. 249-257
    • Vockley, J.1
  • 33
    • 0029063809 scopus 로고
    • Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    • Hagenfeldt L, Venizelos N, von Dobeln U. Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inherited Metab Dis 1995;18:245-8.
    • (1995) J Inherited Metab Dis , vol.18 , pp. 245-248
    • Hagenfeldt, L.1    Venizelos, N.2    Von Dobeln, U.3
  • 34
    • 0023919487 scopus 로고
    • cis-4-Decenoic acid in plasma: A characteristic metabolite in medium-chain acyl-Coa dehydrogenase deficiency
    • Duran M, Bruinvis L, Ketting D, de Klerk JBC, Wadman SK. cis-4-Decenoic acid in plasma: a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency. Clin Chem 1988;34:548-51.
    • (1988) Clin Chem , vol.34 , pp. 548-551
    • Duran, M.1    Bruinvis, L.2    Ketting, D.3    De Klerk, J.B.C.4    Wadman, S.K.5
  • 35
    • 0028821792 scopus 로고
    • Identification and quantitation of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders
    • Onkenhout W, Venizeios V, van de Poel PFH, van de Heuvel MPM, Poorthuis BJHM. Identification and quantitation of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders. Clin Chem 1995;41:1467-74.
    • (1995) Clin Chem , vol.41 , pp. 1467-1474
    • Onkenhout, W.1    Venizeios, V.2    Van De Poel, P.F.H.3    Van De Heuvel, M.P.M.4    Poorthuis, B.J.H.M.5
  • 36
    • 0020061350 scopus 로고
    • Monitoring octanoic and decanoic acids in plasma from children with intractable epilepsy treated with medium-chain triglyceride diet
    • Haidukewych D, Forsythe WI, Sills M. Monitoring octanoic and decanoic acids in plasma from children with intractable epilepsy treated with medium-chain triglyceride diet. Clin Chem 1982;28: 642-5.
    • (1982) Clin Chem , vol.28 , pp. 642-645
    • Haidukewych, D.1    Forsythe, W.I.2    Sills, M.3


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