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Osorio, J. H. . (2015). Estudio In vitro de la deficiencia de Acil-CoA deshidrogenasa de cadena muy larga con afectación muscular. Biosalud, 14(1), 44–50. https://doi.org/10.17151/biosa.2015.14.1.5
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Introducción: Los estudios in vitro, que buscan intermediarios de la degradación mitocondrial de ácidos grasos, facilitan el diagnóstico de alteraciones hereditarias o adquiridas en esa ruta metabólica. Objetivo: Analizar la producción de metabolitos en fibroblastos de pacientes con deficiencia de acil-CoA deshidrogenasa de cadena muy larga (VLCAD) con afectación muscular, incubados con ácido oleico deuterado. Materiales y Métodos: Se incubaron fibroblastos de tres pacientes con deficiencia de acil-CoA deshidrogenasa de cadena muy larga (VLCAD) con cardiomiopatía y de 10 controles en presencia de ácido oleico deuterado. Resultados: Se encontró un perfil característico luego de la incubación de fibroblastos con esta deficiencia. Conclusión: Este sustrato podría ser usado para realizar diagnóstico in vitro de la deficiencia de VLCAD con afectación muscular.
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1. Merritt JL 2nd, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, et al. Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening. Mol Genet Metab 2014; 111(4):484-92.
2. 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.
3. 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.
4. 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 Chim Acta 1999; 281:1-17.
5. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ. Protein measurement with the Folin phenol reagent. J Biol Chem 1951; 193:265-75.
6. Osorio JH. Producción de metabolitos en fibroblastos incubados con ácido oleico deuterado. Archiv Med (Manizales) 2013; 13(2):202-207.
7. Aoyama T, Ueno I, Hashimoto T. Rat very-long-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gen product, is a rate-limiting enzyme in long-chain fatty acid β-oxidation system. The cDNA and deduced amino acid sequence and distinct specificities of the cDNA-expressed protein. J Biol Chem 1994; 269:19088-94.
8. Aoyama T, Uchida Y, Kelley RI, Marble M, Hofman K, Tonsgard JH, et al. A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem. Biophys Res Commun 1993; 191:1369-72.
9. Izai K, Uchida Y, Orii T, Yamamoto S, Hashimoto T. Novel fatty acid β-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long chain acyl-coenzyme A dehydrogenase. J Biol Chem 1992; 267:1027-33.
10. Aoyama T, Souri M, Ushikubo S, Kamijo T, Yamaguchi S, Kelley RI, et al. Purification of human verylong-chainacyl- coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Invest 1995; 95:2465-73.
11. Andresen BS, Bross P, Vianey-Saban C, Divry P, Zabot MT, Roe CR, et al. Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. Hum Molec Genet 1996; 5:461-72.
12. Aoyama T, Souri M, Ueno I, Kamijo T, YamagushI S, Rhead WJ, et al. Cloning of human very-longchain acylcoenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Am J Hum Gen 1995; 57:273-83.
13. Vianey-Saban C, Divry P, Brivet M, Nada M, Zabot MT, Mathieu M, et al. Mitochondrial very-long-chain acylcoenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta 1998; 269:43-62.
14. Olgivie I, Pourfarzam M, Jackson S, Stockdale C, Bartlett K, Turnbull DM. Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria. Neurology 1994; 44:467-73.
15. Minetti C, Garavaglia B, Bado M, Invernizzi F, Bruno C, Rimoldi M, et al. Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. Neuromuscul Disord 1998; 8:3- 6.
16. Houten SM, Wanders RJ. A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation. J Inherit Metab Dis 2010; 33(5):469-77.
17. Moczulski D, Majak I, Mamczur D. An overview of beta-oxidation disorders. Postepy Hig Med Dosw (Online) 2009; 63:266-77.
18. Kompare M, Rizzo WB. Mitochondrial fatty-acid oxidation disorders. Semin Pediatr Neurol 2008; 15(3):140-9.
19. Osorio JH, Pourfarzam M. Early diagnosis of neurometabolic diseases by tandem mass spectrometry. Acylcarnitine profile from cord blood. Rev. Neurol. 2004; 38(1):11-16.
20. Kølvraa s, Gregersen N, Christiensen E, Hobolth N. In vitro fibroblasts studies in a patient with C6- C10 dicarboxilic aciduria: evidence for a defect in general acyl-CoA dehydrogenase. Clin Chim Acta 1982; 126:53-67.
21. 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.
22. 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.
23. Osorio JH, Lluch M, Ribes A. Analysis of organic acids after incubation with (16-2H3)palmitic acid in fibroblasts from patients with mitochondrial beta-oxidation defects. J Inherit Metab Dis. 2003; 26(8):795-803.
2. 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.
3. 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.
4. 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 Chim Acta 1999; 281:1-17.
5. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ. Protein measurement with the Folin phenol reagent. J Biol Chem 1951; 193:265-75.
6. Osorio JH. Producción de metabolitos en fibroblastos incubados con ácido oleico deuterado. Archiv Med (Manizales) 2013; 13(2):202-207.
7. Aoyama T, Ueno I, Hashimoto T. Rat very-long-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gen product, is a rate-limiting enzyme in long-chain fatty acid β-oxidation system. The cDNA and deduced amino acid sequence and distinct specificities of the cDNA-expressed protein. J Biol Chem 1994; 269:19088-94.
8. Aoyama T, Uchida Y, Kelley RI, Marble M, Hofman K, Tonsgard JH, et al. A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem. Biophys Res Commun 1993; 191:1369-72.
9. Izai K, Uchida Y, Orii T, Yamamoto S, Hashimoto T. Novel fatty acid β-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long chain acyl-coenzyme A dehydrogenase. J Biol Chem 1992; 267:1027-33.
10. Aoyama T, Souri M, Ushikubo S, Kamijo T, Yamaguchi S, Kelley RI, et al. Purification of human verylong-chainacyl- coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Invest 1995; 95:2465-73.
11. Andresen BS, Bross P, Vianey-Saban C, Divry P, Zabot MT, Roe CR, et al. Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. Hum Molec Genet 1996; 5:461-72.
12. Aoyama T, Souri M, Ueno I, Kamijo T, YamagushI S, Rhead WJ, et al. Cloning of human very-longchain acylcoenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Am J Hum Gen 1995; 57:273-83.
13. Vianey-Saban C, Divry P, Brivet M, Nada M, Zabot MT, Mathieu M, et al. Mitochondrial very-long-chain acylcoenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta 1998; 269:43-62.
14. Olgivie I, Pourfarzam M, Jackson S, Stockdale C, Bartlett K, Turnbull DM. Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria. Neurology 1994; 44:467-73.
15. Minetti C, Garavaglia B, Bado M, Invernizzi F, Bruno C, Rimoldi M, et al. Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. Neuromuscul Disord 1998; 8:3- 6.
16. Houten SM, Wanders RJ. A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation. J Inherit Metab Dis 2010; 33(5):469-77.
17. Moczulski D, Majak I, Mamczur D. An overview of beta-oxidation disorders. Postepy Hig Med Dosw (Online) 2009; 63:266-77.
18. Kompare M, Rizzo WB. Mitochondrial fatty-acid oxidation disorders. Semin Pediatr Neurol 2008; 15(3):140-9.
19. Osorio JH, Pourfarzam M. Early diagnosis of neurometabolic diseases by tandem mass spectrometry. Acylcarnitine profile from cord blood. Rev. Neurol. 2004; 38(1):11-16.
20. Kølvraa s, Gregersen N, Christiensen E, Hobolth N. In vitro fibroblasts studies in a patient with C6- C10 dicarboxilic aciduria: evidence for a defect in general acyl-CoA dehydrogenase. Clin Chim Acta 1982; 126:53-67.
21. 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.
22. 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.
23. Osorio JH, Lluch M, Ribes A. Analysis of organic acids after incubation with (16-2H3)palmitic acid in fibroblasts from patients with mitochondrial beta-oxidation defects. J Inherit Metab Dis. 2003; 26(8):795-803.
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