Plasma free fatty acids in mitochondrial fatty acid oxidation defects

Clinica Chimica Acta

Volumn 267, Issue 2, 1997, Pages 143-154

  Martinez G ^a   Jimenez Sanchez G ^a   Divry, P ^b   Vianey Saban, C ^b   Riudor, E ^c   Rodes M ^a   Briones, P ^a   Ribes, A ^a  

^a Institut de Bioquimica Clinica Barcelona   (Spain)

^b HÔPITAL DEBROUSSE   (France)

^c HOSPITAL MATERNO INFANTIL VALL D HEBRON   (Spain)

Author keywords

Fatty acids; Mitochondrial oxidation

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; FATTY ACID;

ARTICLE; CLINICAL ARTICLE; DIAGNOSTIC VALUE; ENZYME DEFICIENCY; FATTY ACID BLOOD LEVEL; FATTY ACID OXIDATION; FEMALE; GAS CHROMATOGRAPHY; HUMAN; MASS SPECTROMETRY; METABOLIC DISORDER; MITOCHONDRIAL RESPIRATION; PRIORITY JOURNAL;

ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASE, LONG-CHAIN; ADOLESCENT; ADULT; CARNITINE; CHILD; CHILD, PRESCHOOL; FATTY ACIDS; FATTY ACIDS, NONESTERIFIED; FEMALE; HUMANS; INFANT; MALE; MASS SPECTROMETRY; MITOCHONDRIA; OXIDATION-REDUCTION;

EID: 2542509353     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(97)00130-7     Document Type: Article

References (15)

1. Roe CR, Coates PM. Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease, 7th ed. New York: McGraw-Hill, 1995:1501-1533.
2. Lepage G., Roy C.C. Specific methylation of plasma nonesterified fatty acids in a one-step reaction. J Lipid Res. 29:1988;227-235.
3. Roig M., Pons R.S., Riudor E.et al. The clinical spectrum of long-chain 3-hydroxyacyl-CoA-dehydrogenase deficiency. Pediatr Neurol. 14:1996;236-243.
4. Bertrand C., Largillière C., Zabot M.T., 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. 1180:1993;327-329.
5. Briones P., Garavaglia B., Ribes A.et al. Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency. J Inherit Metab Dis. 18:1995;237-240.
6. Guffon N., Vianey-Saban C., Berthier J.C.et al. Déficit multiple en acyl-CoA déshydrogenase. Deux cas dans une même fratrie. Pédiatrie. 48:1993;365-371.
7. Duran M., Bruinvis L., Ketting D., de Klerk J.B.C., Wadman S.K. cis-4-Decenoic acid in plasma: a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency. Clin Chem. 34:1988;541-548.
8. Onkenhout W., Venizelos V., van der Poel P.F.H.et al. Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders. Clin Chem. 41:1995;1467-1474.
9. Boles R.G., Martin S.K., Blitzer M.G., Rinaldo P. Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver. Hum Pathol. 25:1994;735-741.
10. Duran M, de Barse MMJ, Vianey-Saban C et al. Plasma 5-tetradecenoic acid is the marker for VLCAD deficiency. Abstract, 33rd Symposium SSIEM, 1995: P-120.
11. He X.-Y., Yang S.-Y., Schulz H. Inhibition of enoyl-CoA hydratase by long-chain L-3-hydroxyacyl-CoA and its possible effect on fatty acid oxidation. Arch Biochem Biophys. 298(2):1992;527-531.
12. Nada M.A., Rhead W.J., Sprecher H., Schulz H., Roe C.R. Evidence for intermediate channeling in mitochondrial ß-oxidation. J Biol Chem. 270:1995;530-535.
13. Murphy RC. The handbook of lipid research: Mass spectrometry of lipids. New York, Plenum Press, 1993;7:71-130.
14. Hagenfeldt L., Venizelos N., Von Döbeln U. Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 18:1995;245-248.
15. Pollitt R.J. Disorders of mitochondrial long-chain fatty acid oxidation. J Inherit Metab Dis. 18:1995;473-490.