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Publication Date: 2007-12-21
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Osorio, J. H., Ribes, A., & Lluch, M. (2007). Analysis of the production of deuterated fatty acids by fibroblasts for the in vitro diagnosis of enzymes deficiencies of the transport system of carnitine. Biosalud, 6, 25–31. Retrieved from https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/view/5842
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Abstract
The carnitine transport system is required for the mitochondrial metabolism of longchain fatty acids. The objective of the present study was to analyse the fatty acids produced by fibroblasts incubated with deuterated substrates, using gas chromatographymass spectrometry as a diagnostic tool for the diagnosis of the deficiencies of the three enzymes of this way. A characteristic profile for the carnitine palmitoyl transferase I deficiency was found using this technique which enables us its in vitro diagnosis. For the other two deficiencies (carnitine acil carnitine translocase and carnitinitine palmitoyl transferase II) it was not possible to find a characteristic profile.
References
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Lowry OH, Rosebrough NJ, Farr AL, Randall RJ. Protein measurement with the Folin phenol reagent. J. Biol. Chem. 1951; 193:265-75.
Nada MA, Chace DH, Sprecher H, Roe CR. Investigation of ß-oxidation intermediates in normal and MCAD-deficient human fibroblasts using tandem mass spectrometry. Biochem Mol Med 1995; 54:59-66.
Jogl G, Hsiao YS, Tong L. Structure and function of carnitine acyltransferases. Ann N Y Acad Sci. 2004; 1033:17-29.
Osorio JH, Rodés M, Garavaglia B, Briones P, Ribes A. Estudios bioquímicos en 46 pacientes con deficiencias de la β-oxidación mitocondrial. En: Sociedad Española de Pediatria. IV congreso de errores congénitos del metabolismo. Memorias. Puerto de la Cruz-Tenerife. Islas Canarias. España. 2001.18-21 de abril. p. 26.
Ventura FV, Costa CG, Struys EA, Ruiter J, Allers P, Ijlst L, et al. Quantitative acylcarnitine profile in fibroblasts using U-13Cpalmitic acid :an improved tool for the diagnosis of fatty acid oxidation defects. Clin.Chem.Acta 1999; 281:1-17.
Shen JJ, Matern D, Millington DS, Hillman S, Fezor MD, Bennet MJ, et al. Acylcarnitines in fibroblasts of patients with lonhg-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. J Inher Metab Dis 2000; 23:27-44.
Roe CR, Roe DS. Recent developments in the investigation of inherited metabolic disorders using cultures human cells. Mol Genet Metab 1999; 68:243-257.
Kler RS, Jackson S, Bartlett K, Bindoff LA, Eaton S, Pourfarzam M, et al. Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation. J Biol. Chem. 1991; 266:22932-38.
Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006; 142:77-85.
Leonhardt M, Langhans W. Fatty acid oxidation and control of food intake. Physiol Behav. 2004; 83:645-51.
Lowry OH, Rosebrough NJ, Farr AL, Randall RJ. Protein measurement with the Folin phenol reagent. J. Biol. Chem. 1951; 193:265-75.
Nada MA, Chace DH, Sprecher H, Roe CR. Investigation of ß-oxidation intermediates in normal and MCAD-deficient human fibroblasts using tandem mass spectrometry. Biochem Mol Med 1995; 54:59-66.
Jogl G, Hsiao YS, Tong L. Structure and function of carnitine acyltransferases. Ann N Y Acad Sci. 2004; 1033:17-29.
Osorio JH, Rodés M, Garavaglia B, Briones P, Ribes A. Estudios bioquímicos en 46 pacientes con deficiencias de la β-oxidación mitocondrial. En: Sociedad Española de Pediatria. IV congreso de errores congénitos del metabolismo. Memorias. Puerto de la Cruz-Tenerife. Islas Canarias. España. 2001.18-21 de abril. p. 26.
Ventura FV, Costa CG, Struys EA, Ruiter J, Allers P, Ijlst L, et al. Quantitative acylcarnitine profile in fibroblasts using U-13Cpalmitic acid :an improved tool for the diagnosis of fatty acid oxidation defects. Clin.Chem.Acta 1999; 281:1-17.
Shen JJ, Matern D, Millington DS, Hillman S, Fezor MD, Bennet MJ, et al. Acylcarnitines in fibroblasts of patients with lonhg-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. J Inher Metab Dis 2000; 23:27-44.
Roe CR, Roe DS. Recent developments in the investigation of inherited metabolic disorders using cultures human cells. Mol Genet Metab 1999; 68:243-257.
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