Publication Date: 2009-12-18
How to Cite
Osorio, J. H., Ribes, A., & Lluc, M. (2009). “in vitro” diagnosis of short chain acyl co-a dehydrogenase deficiency. Biosalud, 8, 96–101. Retrieved from https://ucaldas.metarevistas.org/index.php/biosalud/article/view/5529
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Abstract
Short-chain acyl-CoA dehydrogenase (SCAD) is the key enzyme for degrading fatty acids with a 4-6 atoms carbon chain. It is necessary to always confirm this deficiency using laboratory methods. Fibroblasts of patients suffering SCAD deficiency were incubated with tritiated palmitate and miristatesubstrates. A significant difference (p<0.05) was found when comparing tritiated palmitate and miristate degradation between controls and patients suffering SCAD deficiency.
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References
Amendt BA, Greene C, Sweetman L, Cloherty J, Shih V, Moon A, et al. Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. J Clin Invest 1987;79:1303-1309.
Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, et al. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 2001;49;1:18-23.
Rhead WL, Wolff JA, Lipson M, Falace P, Desai N, Fritchman K, et al. Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders. Pediatr Res 1987;21:371-376.
Rinaldo P, Welch RD, Previs SF, Schmidt-Sommerfeld E, Gargus JJ, O’Shea JJ, et al. Ethylmalonic/adipic aciduria: effect of oral medium chain triglycerides, carnitine and glycine on urinary excretion of organic acids, acylcarnitines and acylglycines. Pediatr Res 1991;30:216-221.
Gregersen N, Rhead W, Christensen E. (1990) Riboflavin responsive Glutaric Aciduria type II. In: Tanaka K, Coates PM, eds. Clinical, Biochemical and Molecular Aspects of Fatty Acid Oxidation. Alan R Liss Inc.New York: pp. 477-494.
Hegre CS, Halenz DR, Lane MD. The enzymatic carboxylation of butyryl-coenzyme A. J Am Chem Soc 1959;81:6526-6527.
Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, et al. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. Hum Mol Genet 1998;7(4):619-27.
Christensen E, Brandt NJ, Schmalbruch H, Kamieniecka Z, Hertz B, Ruitenbeek W. Muscle cytochrome C oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1993;16:553-556.
García-Silva MT, Ribes A, Campos Y, Garavaglia B, Arenas J. Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. Pediatr Neurol 1997;17(2):165-70.
Tanaka K, Kean EA, Johnson B. Jamaican vomiting sickness: Biochemical investigation of two cases. New Engl J Med 1976;295:461-467.
Osorio JH. Patología molecular de los errores hereditarios de la β-oxidación mitocondrial de los ácidos grasos: alcances en el diagnóstico y tratamiento. Biosalud 2006;5:71-83.
Lowry OH, Rosebrough NJ, Farr Al, Randall RJ. Protein measurement with the Folin phenol reagent. J Biol Chem 1951;193:265-275.
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.
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.
Kolvraa 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.
Saudubray JM, Coude FX, Demaugre F, Johnson C, Gibson KM, Nyhan WL. Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation. Pediatr Res 1982;16:877-881.
Rhead WJ, Moon A, Oettger V, Henkle K. 14CO2-Labelled sustrate catabolism by human diploid fibroblasts derived from infants and adults. Biochem Med 1985;34:182-188.
Veerkamp JH, Van Moerkerk HTB, Glatz JFC, Zuurveld JGEM, Jacobs AEM, et al. 14CO2 production is no measure of [14C]fatty acid oxidation. Biochem. Med Metab Biol 1986;16:248-259.
Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, et al. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a twoyear summary from the New England newborn screening program. Clin Chem 2001;47:194-195.
Levy HL. Newborn screening by tandem mass spectrometry: a new era. Clin Chem 1998;44:24012.
Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, et al. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 2001;49;1:18-23.
Rhead WL, Wolff JA, Lipson M, Falace P, Desai N, Fritchman K, et al. Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders. Pediatr Res 1987;21:371-376.
Rinaldo P, Welch RD, Previs SF, Schmidt-Sommerfeld E, Gargus JJ, O’Shea JJ, et al. Ethylmalonic/adipic aciduria: effect of oral medium chain triglycerides, carnitine and glycine on urinary excretion of organic acids, acylcarnitines and acylglycines. Pediatr Res 1991;30:216-221.
Gregersen N, Rhead W, Christensen E. (1990) Riboflavin responsive Glutaric Aciduria type II. In: Tanaka K, Coates PM, eds. Clinical, Biochemical and Molecular Aspects of Fatty Acid Oxidation. Alan R Liss Inc.New York: pp. 477-494.
Hegre CS, Halenz DR, Lane MD. The enzymatic carboxylation of butyryl-coenzyme A. J Am Chem Soc 1959;81:6526-6527.
Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, et al. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. Hum Mol Genet 1998;7(4):619-27.
Christensen E, Brandt NJ, Schmalbruch H, Kamieniecka Z, Hertz B, Ruitenbeek W. Muscle cytochrome C oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1993;16:553-556.
García-Silva MT, Ribes A, Campos Y, Garavaglia B, Arenas J. Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. Pediatr Neurol 1997;17(2):165-70.
Tanaka K, Kean EA, Johnson B. Jamaican vomiting sickness: Biochemical investigation of two cases. New Engl J Med 1976;295:461-467.
Osorio JH. Patología molecular de los errores hereditarios de la β-oxidación mitocondrial de los ácidos grasos: alcances en el diagnóstico y tratamiento. Biosalud 2006;5:71-83.
Lowry OH, Rosebrough NJ, Farr Al, Randall RJ. Protein measurement with the Folin phenol reagent. J Biol Chem 1951;193:265-275.
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.
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.
Kolvraa 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.
Saudubray JM, Coude FX, Demaugre F, Johnson C, Gibson KM, Nyhan WL. Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation. Pediatr Res 1982;16:877-881.
Rhead WJ, Moon A, Oettger V, Henkle K. 14CO2-Labelled sustrate catabolism by human diploid fibroblasts derived from infants and adults. Biochem Med 1985;34:182-188.
Veerkamp JH, Van Moerkerk HTB, Glatz JFC, Zuurveld JGEM, Jacobs AEM, et al. 14CO2 production is no measure of [14C]fatty acid oxidation. Biochem. Med Metab Biol 1986;16:248-259.
Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, et al. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a twoyear summary from the New England newborn screening program. Clin Chem 2001;47:194-195.
Levy HL. Newborn screening by tandem mass spectrometry: a new era. Clin Chem 1998;44:24012.
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