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Publication Date: 2008-12-19
How to Cite
Osorio, J. H., Ribes, A., & Lluch, M. (2008). In vitro studie of the diseases caused by enzymatic deficiencies of Carnitine transport system. Biosalud, 7, 63–68. Retrieved from https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/view/5832
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Abstract
The inherited inborn metabolic errors are a group of diseases caused by enzymatic deficiencies, incluyding deficiencies of the enzymes used for the income of long-chain fatty acids into the mitochondria, as a necessary step for obtaining energy during endurance exercise and fasting. The present work shows the utility of incubating fibroblasts with tritiated substrates for the diagnosis of these diseases. A severe depression for oxidizing these substrates was observed for these patients. However, it was not possible to differentiate between the three enzymatic deficiencies studied.
References
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Manning NJ, Olpin SE, Pollit RJ, Webley JA. Comparison of 9.10-3HPalmitic and 9.10-3Hmyristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts. J Inher Metab Dis 1990;13:58-68.
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.
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.
Osorio JH, Ribes A, Lluc M. Análisis de la producción de ácidos grasos deuterados por fibroblastos para el diagnóstico in vitro de las deficiencias de las enzimas del sistema de transporte de la carnitina. Biosalud 2007;25-31.
Kølvraa S, Gregersen N, Christiensen E, Hobolth N. In vitro fibroblasts studies in patient with C6-C10 dicarboxilic aciduria: evidence for a defect in general acyl-CoA dehydrogenase. Clin. Chim Acta 1982;126:53-67.
Saudubray JM, Coude FX, Demaugre F, Johnson C, Gibson KM, Nyhan WL.
Veerkamp JH, van Moerkerk, HTB, Glatz JFC, Zuurveld JGEM., Jacobs AEM, Wagenmakers JM. 14CO2 production is no measure of [14C]fatty acid oxidation. Biochem Med Metab Biol 1986;16:248-259.
Rhead WJ, Moon A, Roettger V, Henkle K. 14CO2-Labelled sustrate catabolism by human diploid fibroblasts derived from infants and adults. Biochem Med 1985;34:182-188.
Venizelos N, Von Dobeln U, Hagenfeld L Fatty acid oxidation in fibroblasts from patients with defects in ß-oxidation and in the respiratory chain. J Inher Metab Dis 1988;21:409-415.
Manning NJ, Olpin SE, Pollit RJ, Webley JA. Comparison of 9.10-3HPalmitic and 9.10-3Hmyristic acids for the detection of defects of fatty acid oxidation in intac cultured fibroblasts. J Inher Metab Dis 1990;13:58-68.
Roe CR, Roe DS. Recent developments in the investigation of inherited metabolic disorders using cultures human cells. Mol Genet Metab 1999;68:243-257.
Olpin SE, Manning NJ, Carpenter K, Middleton B, Pollit RJ. Differential diagnosis of hydroxydicarboxylic aciduria based on release of 3H2O from [9, 10-3H]-myristic and [9,10-3H]-palmitic acids by intact cultured fibroblasts. J Inher Metab Dis 1992;15:883-890.
Manning NJ, Olpin SE, Pollit RJ, Webley JA. Comparison of 9.10-3HPalmitic and 9.10-3Hmyristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts. J Inher Metab Dis 1990;13:58-68.
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.
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.
Osorio JH, Ribes A, Lluc M. Análisis de la producción de ácidos grasos deuterados por fibroblastos para el diagnóstico in vitro de las deficiencias de las enzimas del sistema de transporte de la carnitina. Biosalud 2007;25-31.
Kølvraa S, Gregersen N, Christiensen E, Hobolth N. In vitro fibroblasts studies in patient with C6-C10 dicarboxilic aciduria: evidence for a defect in general acyl-CoA dehydrogenase. Clin. Chim Acta 1982;126:53-67.
Saudubray JM, Coude FX, Demaugre F, Johnson C, Gibson KM, Nyhan WL.
Veerkamp JH, van Moerkerk, HTB, Glatz JFC, Zuurveld JGEM., Jacobs AEM, Wagenmakers JM. 14CO2 production is no measure of [14C]fatty acid oxidation. Biochem Med Metab Biol 1986;16:248-259.
Rhead WJ, Moon A, Roettger V, Henkle K. 14CO2-Labelled sustrate catabolism by human diploid fibroblasts derived from infants and adults. Biochem Med 1985;34:182-188.
Venizelos N, Von Dobeln U, Hagenfeld L Fatty acid oxidation in fibroblasts from patients with defects in ß-oxidation and in the respiratory chain. J Inher Metab Dis 1988;21:409-415.
Manning NJ, Olpin SE, Pollit RJ, Webley JA. Comparison of 9.10-3HPalmitic and 9.10-3Hmyristic acids for the detection of defects of fatty acid oxidation in intac cultured fibroblasts. J Inher Metab Dis 1990;13:58-68.
Roe CR, Roe DS. Recent developments in the investigation of inherited metabolic disorders using cultures human cells. Mol Genet Metab 1999;68:243-257.
Olpin SE, Manning NJ, Carpenter K, Middleton B, Pollit RJ. Differential diagnosis of hydroxydicarboxylic aciduria based on release of 3H2O from [9, 10-3H]-myristic and [9,10-3H]-palmitic acids by intact cultured fibroblasts. J Inher Metab Dis 1992;15:883-890.
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