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Fecha Publicación: 2007-12-21
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Osorio, J. H. (2007). Uses of tandem mass spectrometry as a novel tool for research and diagnosis of intermediary metabolism diseases. Biosalud, 6, 161–174. Recuperado a partir de https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/view/5852
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El estudio de las enfermedades hereditarias se está volviendo importante, debido al papel fundamental de estas enfermedades en salud pública. Sin embargo, el conocimiento de estas alteraciones no es común entre la comunidad médica, probablemente debido a que la falta de tecnología para el diagnóstico de las mismas es uno de los principales problemas que los clínicos deben afrontar. La espectrometría de masas en tándem es una técnica novedosa utilizada principalmente en los países desarrollados, para la investigación de enfermedades metabólicas y otras alteraciones. La presente revisión explica la manera como funciona un espectrómetro de masas y cómo la investigación en este campo puede ser utilizada para el diagnóstico e investigación de las enfermedades relacionadas con el metabolismo intermediario.
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Rose ME, Johnstone RAW. Mass spectrometry for chemists and biochemists. Cambridge: Cambridge University Press; 1982. p.1-148.
Wilson, K. Mass spectrometric techniques. In: Wilson K, Walker J, eds. Practical Biochemistry 4 ed. Cambridge University Press; 1994. p. 381-424.
Niwa T. Basic theory of mass spectrometry. Clin Chim Acta 1995a; 241:15-71.
Niwa T. Procedures for MS analysis of clinically relevant compounds. Clin Chim Acta 1995b; 242:75-152.
Rose ME. Mass spectrometry. In: Specialist periodical reports. RAW Johnstone ed. Vol 7. London: Royal Society of Chemistry; 1984. p.1-54.
Chapman JR. Practical organic mass spectrometry. Chapter 2. Chichester: Wiley; 1985. p. 122-180.
Johnstone RAW, Rose ME. Mass spectrometry for chemist and biochemist. 2 ed. Cambridge: Cambridge University Press; 1984. p. 45-67.
Caprioli RM. Continuous-flow fast atom bombardment mass spectrometry. New York: Wiley; 1990. p. 1-260.
Lubman M. Lasers and mass spectrometry. Oxford: Oxford University press; 1990. p. 1-216.
Karas M, Hillenkamp F. Laser desorption ionization of proteins with molecular masses exceeding 10.000 Daltons. Anal Chem 1998; 60:2299-301.
Vorm M, Roepstorff P, Mann M. Peptide sequence information derived by partial acid hydrolysis and matrix-assisted laser desorption/ionnization mass spectrometer. Anal Chem 1994; 66:3281-87.
Jensen OM, Podtelejnikov A, Mann M. Delayed extraction improves specificity in database searches by matrix-assisted laser desorption/ionization peptide maps. Rapid Commun Mass Spectrom 1996; 101371-78.
Fenn JB, Mann M, Meng CK, Wong SF, Whitehouse CM. Electrospray ionisation for mass spectrometry of large biomolecules. Science 1989; 246:64-71.
Harrata AK, Domelsmith LN, Cole RB. Electrospray mass spectrometry for characterization of lipid A from Enterobacter agglomerans. Biol Mass Spectrom 1993; 22:59-67.
Yang L, Tang Q, Harrata AK, Lee CS. Capillary isoelectric focusing-electrospray ionization mass spectrometry for transferrin glycoforms analysis. Anal Biochem 1996; 1:140-149.
Yang L, Tang Q, Harrata AK, Lee CS. Capillary isoelectric focusing-electrospray ionization mass spectrometry for transferrin glycoforms analysis. Anal Biochem 1996; 1:140-149.
Murphy RC. Mass spectrometry of lipids. Handbook of lipid research 7. London: Plennum press; 1996. p. 48-64.
Tang W, Harrata AK, Lee CS. Two-dimensional analysis of recombinant E. coli proteins using capillary isoelectric focusing electrospray ionization mass spectrometry. Anal Chem 1997; 69:3177-82.
Van Berkel GJ. Electrolytic deposition of metals on to the high-voltage contact in an electrospray emitter: implications for gas-phase ion formation. J Mass Spectrom 2000; 35:773-783.
Van Rooyen GF, Badenhorst D, Swart KJ, Hundt HK, Scanes T, Hundt AF. Determination of carbamazepine and carbamazepine 10,11-epoxide in human plasma by tandem liquid chromatography-mass spectrometry with electrospray ionisation. J Chromatogr B Analyt Technol Biomed Life Sci 2002; 25:1-7.
Bush KL, Glish GL, McLukey SA. MS/MS techniques and applications of tandem mass spectrometry. New York: VHC Publishers; 1989. p. 1-456.
Krause E, Wenschuh H, Jungblut PR. The dominance of arginine-contacting peptides in MALDI-derived tryptic mass fingerprints of proteins. Anal Chem 1999; 71:4160-65.
Wilm M, Mann M. Analytical properties of the nanoelectrospray ion source. Anal Chem 1996; 68:1-8.
Smyth WF, Brooks P. A critical evaluation of high performance liquid chromatography-electrospray ionisation-mass spectrometry and capillary electrophoresis-electrospray-mass spectrometry for the detection and determination of small molecules of significance in clinical and forensic science. Electrophoresis 2004; 25:1413-46.
McLuckey SA, Van Berkel GJ, Goeringer DE, Glish GL. Ion trap mass spectrometry. Using highpressure ionization. Anal Chem 1994; 66:737A-743A.
Van Berkel GJ, Quirke JM, Tigani RA, Dilley AS, Covey TR. Derivatization for electrospray ionization mass spectrometry. 3. Electrochemically ionizablederivatives. Anal Chem 1998; 15: 1544-54.
Roe CR, Millington DS, Maltby DA. Identification of 3-methylglutarylcarnitine. A new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. J Clin Invest 1986; 77:1391-94.
Norwood DL, Kodo N, Millington DS. Application of continuous-flow liquid chromatography/fast-atom bombardment mass spectrometry to the analysis of diagnostic acylcarnitines in human urine. Rapid Commun Mass Spectrom 1988; 2:269-72.
Millington DS, Norwood DL, Kodo N, Roe CR, Inoue F. Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue. Anal Biochem 1989; 180:331-9.
Kodo N, Millington DS, Norwood DL, Roe CR. Quantative assay of free and total carnitine using tandem mass spectrometry. Clin Chim Acta 1989; 186:383-90.
Harrison AG, Cotter RJ. Methods of ionization. In: McClosey JA. ed. Methods in Enzymology. Vol. 193. London: Mass spectrometry, Academic Press; 1990. p. 3-37.
Jennings KR, Dolnikowski GC. Mass analyzers. In: McClosey JA. ed. Methods in enzymology vol. 193. London: Mass spectrometry, Academic press; 1990. p. 67-81.
McClellan JE, Murphy JP, Mulholland J, Yost RA. Effects of fragile ions on mass resolution and on isolation for tandem mass spectrometry in the quadrupole ion trap mass spectrometer. Anal Chem 2002; 74:402-12.
Yost RA, Boyd RK. Tandem mass spectrometry: quadrupole and hybrid instruments. In: McClosey JA. ed. Methods in Enzymology. Vol 193. London: Mass spectrometry, Academic Press; 1990. p. 154-200.
Edmonds CG, Smith RD. Electrospray ionisation mass spectrometry. In: McCloskey JA. ed. Methods in Enzymology. Vol 193. London: Mass spectrometry, Academic Press; 1990. p. 40-51.
Johnson JV, Lee MS, Lee MR, Yost T. Triple Quadrupole MS/MS in Biomedical Research. In: Mass Spectrometry in Biomedical Research. London: Chapter 25 Academic press; 1986. p. 457-459.
Evans S. Detectors. In: McClosey JA. Ed. Methods in enzymology. Vol. 193. London: Mass spectrometry, Academic press; 1990. p. 52-58.
Millington DS, Kodo N, Terada N, Roe D, Chace DH. The analysis of diagnostic markers of genetic disorders in human blood and urine using tandem mass spectrometry with liquid secondary ion mass spectrometry. Int J Mass Spect Ion Proc 1991; 111:211-28.
Bartlett K, Pourfarzam M. Inherited disorders of mitochondrial fatty acid oxidation. Curr Paediatr 1997; 7:118-22.
Bartlett K, Eaton SJ, Pourfarzam M. New developments in neonatal screening. Arch Dis Child.1997; 77:151-54.
Green A, Pollit RJ. Population newborn screening for inherited metabolic disease: Current UK perspectives. J Inher Metab Dis 1999; 22:572-79.
Levy HL. Newborn screening by tandem mass spectrometry: a new era. Clin Chem 1998; 44:2401-02.
Vianey-Saban C, Guffon N, Delolne F, Guibaud P, Mathieu M, Divry P. Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry. J Inher Metab Dis 1997; 20:411-44.
Millington DS, Chace DH, Hillman SL, Kodo N, Terada N. Diagnosis of Metabolic Disease. In: Matsudo T, Capriolo RM, Gross ML, Sevama Y. (eds). Biological Mass Spectrometry: Present and Future. London: Academic Press; 1994. p. 559-79.
Millington DS, Chace DH. Carnitine and acylcarnitines in metabolic disease diagnosis and management. In: Mass spectrometry: clinical and biomedical applications, vol. I. Desiderio DM. (ed.). New York: Plenum Press; 1992. p 299-316.
Libert R, Van Hoof F, Thillaye M, Vincent MF, Nassogne MC, Stroobant V, et al. Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency. J Inher Metab Dis 1999; 22:9-18.
Shigmatsu Y, Hata I, Nakai A, Kikawa Y, Sudo M. Tanaka Y, et al. Prenatal Diagnosis of Organic Acidemias Based on Amniotic Fluid Levels of Acylcarnitines. Pediatr Res 1996; 39;4.680-84.
Rashed MS, Ozand PT, Bennet MJ, Barnard JJ, Govindaraza DR, Rinaldo P. Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmorten bile. Clin Chem 1995; 41:1109-14.
Osorio JH, Pourfarzam M. Plasma free and total carnitine measured in children by tandem mass spectrometry. Braz J Med Biol Res 2002; 35:1265-71.
Chace DH. 2005 International Conference on Metabolic Profiling. November 14-15, 2006, NC, USA. Expert Rev Mol Diagn 2006; 6:135-6.
Rose ME, Johnstone RAW. Mass spectrometry for chemists and biochemists. Cambridge: Cambridge University Press; 1982. p.1-148.
Wilson, K. Mass spectrometric techniques. In: Wilson K, Walker J, eds. Practical Biochemistry 4 ed. Cambridge University Press; 1994. p. 381-424.
Niwa T. Basic theory of mass spectrometry. Clin Chim Acta 1995a; 241:15-71.
Niwa T. Procedures for MS analysis of clinically relevant compounds. Clin Chim Acta 1995b; 242:75-152.
Rose ME. Mass spectrometry. In: Specialist periodical reports. RAW Johnstone ed. Vol 7. London: Royal Society of Chemistry; 1984. p.1-54.
Chapman JR. Practical organic mass spectrometry. Chapter 2. Chichester: Wiley; 1985. p. 122-180.
Johnstone RAW, Rose ME. Mass spectrometry for chemist and biochemist. 2 ed. Cambridge: Cambridge University Press; 1984. p. 45-67.
Caprioli RM. Continuous-flow fast atom bombardment mass spectrometry. New York: Wiley; 1990. p. 1-260.
Lubman M. Lasers and mass spectrometry. Oxford: Oxford University press; 1990. p. 1-216.
Karas M, Hillenkamp F. Laser desorption ionization of proteins with molecular masses exceeding 10.000 Daltons. Anal Chem 1998; 60:2299-301.
Vorm M, Roepstorff P, Mann M. Peptide sequence information derived by partial acid hydrolysis and matrix-assisted laser desorption/ionnization mass spectrometer. Anal Chem 1994; 66:3281-87.
Jensen OM, Podtelejnikov A, Mann M. Delayed extraction improves specificity in database searches by matrix-assisted laser desorption/ionization peptide maps. Rapid Commun Mass Spectrom 1996; 101371-78.
Fenn JB, Mann M, Meng CK, Wong SF, Whitehouse CM. Electrospray ionisation for mass spectrometry of large biomolecules. Science 1989; 246:64-71.
Harrata AK, Domelsmith LN, Cole RB. Electrospray mass spectrometry for characterization of lipid A from Enterobacter agglomerans. Biol Mass Spectrom 1993; 22:59-67.
Yang L, Tang Q, Harrata AK, Lee CS. Capillary isoelectric focusing-electrospray ionization mass spectrometry for transferrin glycoforms analysis. Anal Biochem 1996; 1:140-149.
Yang L, Tang Q, Harrata AK, Lee CS. Capillary isoelectric focusing-electrospray ionization mass spectrometry for transferrin glycoforms analysis. Anal Biochem 1996; 1:140-149.
Murphy RC. Mass spectrometry of lipids. Handbook of lipid research 7. London: Plennum press; 1996. p. 48-64.
Tang W, Harrata AK, Lee CS. Two-dimensional analysis of recombinant E. coli proteins using capillary isoelectric focusing electrospray ionization mass spectrometry. Anal Chem 1997; 69:3177-82.
Van Berkel GJ. Electrolytic deposition of metals on to the high-voltage contact in an electrospray emitter: implications for gas-phase ion formation. J Mass Spectrom 2000; 35:773-783.
Van Rooyen GF, Badenhorst D, Swart KJ, Hundt HK, Scanes T, Hundt AF. Determination of carbamazepine and carbamazepine 10,11-epoxide in human plasma by tandem liquid chromatography-mass spectrometry with electrospray ionisation. J Chromatogr B Analyt Technol Biomed Life Sci 2002; 25:1-7.
Bush KL, Glish GL, McLukey SA. MS/MS techniques and applications of tandem mass spectrometry. New York: VHC Publishers; 1989. p. 1-456.
Krause E, Wenschuh H, Jungblut PR. The dominance of arginine-contacting peptides in MALDI-derived tryptic mass fingerprints of proteins. Anal Chem 1999; 71:4160-65.
Wilm M, Mann M. Analytical properties of the nanoelectrospray ion source. Anal Chem 1996; 68:1-8.
Smyth WF, Brooks P. A critical evaluation of high performance liquid chromatography-electrospray ionisation-mass spectrometry and capillary electrophoresis-electrospray-mass spectrometry for the detection and determination of small molecules of significance in clinical and forensic science. Electrophoresis 2004; 25:1413-46.
McLuckey SA, Van Berkel GJ, Goeringer DE, Glish GL. Ion trap mass spectrometry. Using highpressure ionization. Anal Chem 1994; 66:737A-743A.
Van Berkel GJ, Quirke JM, Tigani RA, Dilley AS, Covey TR. Derivatization for electrospray ionization mass spectrometry. 3. Electrochemically ionizablederivatives. Anal Chem 1998; 15: 1544-54.
Roe CR, Millington DS, Maltby DA. Identification of 3-methylglutarylcarnitine. A new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. J Clin Invest 1986; 77:1391-94.
Norwood DL, Kodo N, Millington DS. Application of continuous-flow liquid chromatography/fast-atom bombardment mass spectrometry to the analysis of diagnostic acylcarnitines in human urine. Rapid Commun Mass Spectrom 1988; 2:269-72.
Millington DS, Norwood DL, Kodo N, Roe CR, Inoue F. Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue. Anal Biochem 1989; 180:331-9.
Kodo N, Millington DS, Norwood DL, Roe CR. Quantative assay of free and total carnitine using tandem mass spectrometry. Clin Chim Acta 1989; 186:383-90.
Harrison AG, Cotter RJ. Methods of ionization. In: McClosey JA. ed. Methods in Enzymology. Vol. 193. London: Mass spectrometry, Academic Press; 1990. p. 3-37.
Jennings KR, Dolnikowski GC. Mass analyzers. In: McClosey JA. ed. Methods in enzymology vol. 193. London: Mass spectrometry, Academic press; 1990. p. 67-81.
McClellan JE, Murphy JP, Mulholland J, Yost RA. Effects of fragile ions on mass resolution and on isolation for tandem mass spectrometry in the quadrupole ion trap mass spectrometer. Anal Chem 2002; 74:402-12.
Yost RA, Boyd RK. Tandem mass spectrometry: quadrupole and hybrid instruments. In: McClosey JA. ed. Methods in Enzymology. Vol 193. London: Mass spectrometry, Academic Press; 1990. p. 154-200.
Edmonds CG, Smith RD. Electrospray ionisation mass spectrometry. In: McCloskey JA. ed. Methods in Enzymology. Vol 193. London: Mass spectrometry, Academic Press; 1990. p. 40-51.
Johnson JV, Lee MS, Lee MR, Yost T. Triple Quadrupole MS/MS in Biomedical Research. In: Mass Spectrometry in Biomedical Research. London: Chapter 25 Academic press; 1986. p. 457-459.
Evans S. Detectors. In: McClosey JA. Ed. Methods in enzymology. Vol. 193. London: Mass spectrometry, Academic press; 1990. p. 52-58.
Millington DS, Kodo N, Terada N, Roe D, Chace DH. The analysis of diagnostic markers of genetic disorders in human blood and urine using tandem mass spectrometry with liquid secondary ion mass spectrometry. Int J Mass Spect Ion Proc 1991; 111:211-28.
Bartlett K, Pourfarzam M. Inherited disorders of mitochondrial fatty acid oxidation. Curr Paediatr 1997; 7:118-22.
Bartlett K, Eaton SJ, Pourfarzam M. New developments in neonatal screening. Arch Dis Child.1997; 77:151-54.
Green A, Pollit RJ. Population newborn screening for inherited metabolic disease: Current UK perspectives. J Inher Metab Dis 1999; 22:572-79.
Levy HL. Newborn screening by tandem mass spectrometry: a new era. Clin Chem 1998; 44:2401-02.
Vianey-Saban C, Guffon N, Delolne F, Guibaud P, Mathieu M, Divry P. Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry. J Inher Metab Dis 1997; 20:411-44.
Millington DS, Chace DH, Hillman SL, Kodo N, Terada N. Diagnosis of Metabolic Disease. In: Matsudo T, Capriolo RM, Gross ML, Sevama Y. (eds). Biological Mass Spectrometry: Present and Future. London: Academic Press; 1994. p. 559-79.
Millington DS, Chace DH. Carnitine and acylcarnitines in metabolic disease diagnosis and management. In: Mass spectrometry: clinical and biomedical applications, vol. I. Desiderio DM. (ed.). New York: Plenum Press; 1992. p 299-316.
Libert R, Van Hoof F, Thillaye M, Vincent MF, Nassogne MC, Stroobant V, et al. Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency. J Inher Metab Dis 1999; 22:9-18.
Shigmatsu Y, Hata I, Nakai A, Kikawa Y, Sudo M. Tanaka Y, et al. Prenatal Diagnosis of Organic Acidemias Based on Amniotic Fluid Levels of Acylcarnitines. Pediatr Res 1996; 39;4.680-84.
Rashed MS, Ozand PT, Bennet MJ, Barnard JJ, Govindaraza DR, Rinaldo P. Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmorten bile. Clin Chem 1995; 41:1109-14.
Osorio JH, Pourfarzam M. Plasma free and total carnitine measured in children by tandem mass spectrometry. Braz J Med Biol Res 2002; 35:1265-71.
Chace DH. 2005 International Conference on Metabolic Profiling. November 14-15, 2006, NC, USA. Expert Rev Mol Diagn 2006; 6:135-6.
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