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Fecha Publicación: 2008-12-19
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Osorio, J. H., Loango Chamorro, N., & Landázuri, P. (2008). El tamizaje metabólico en el diagnóstico de los errores innatos del metabolismo. Biosalud, 7, 131–140. Recuperado a partir de https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/view/5838
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Los errores innatos del metabolismo pueden debutar clínicamente desde el nacimiento hasta la edad adulta. Sin embargo, muchas alteraciones pueden ser manejadas si se realiza diagnóstico precoz, evitando lesiones severas en algunos sistemas del organismo. La presente revisión analiza la literatura científica disponible con relación al tamizaje de estas enfermedades mediante espectrometría de masas en tándem.
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Arroyo M, Crawford JM. Hepatitic inherited metabolic disorders. Semin Diagn Pathol 2006;23(3-4):182-189.
Osorio JH. Consideraciones específicas para el entendimiento del síndrome de muerte súbita del lactante. Revista Hacia la promoción de la salud 2007;79-88.
Saudubray JM. Inborn errors of metabolism. Semin Neonatol 2002;7:1.
Barba Evia JR. Tamiz neonatal: Una estrategia en la medicina preventiva. Rev Mex Pat Clin 51;3:130-144.
Garrod AE. The incidence of alkaptonuria: a study in chemical individuality. 1902. Mol Med 1996;2(3):274-282.
Følling I. The discovery of phenylketonuria. Acta Paediatr Suppl. 1994;407:4-10.
Dhondt JL. Neonatal screening: from the ‘Guthrie age’ to the ‘genetic age’. J Inherit Metab Dis 2007;30(4):418-422.
Downing M, Pollitt R. Newborn bloodspot screening in the UK--past, present and future. Ann Clin Biochem 2008;45(Pt 1):11-17.
Therrell BL, Adams J. Newborn screening in North America. J Inherit Metab Dis 2007;30(4):447-465.
Alexander D. The National Institute of Child Health and Human Development and phenylketonuria. Pediatrics 2003;112(6 Pt 2):1514-1515.
Kompare M, Rizzo WB. Mitochondrial fatty-acid oxidation disorders. Semin Pediatr Neurol 2008;15(3):140-149.
Rinaldo P, Lim JS, Tortorelli S, Gavrilov D, Matern D.Newborn screening of metabolic disorders: recent progress and future developments. Nestle Nutr Workshop Ser Pediatr Program. 2008;62:81-93; discussion 93-96.
Ho C, Lam C, Chan M, Cheung R, Law L, Lit L, Ng K, Suen M, Tai H. Electrospray ionisation mass spectrometry: principles and clinical applications. Clin Biochem Rev 2003;24(1):3-12.
Daniel Sharer J. An overview of biochemical genetics. Curr Protoc Hum Genet. 2005;17:Unit 17.1.
Vogeser M, Seger C. A decade of HPLC-MS/MS in the routine clinical laboratory-goals for further developments. Clin Biochem. 2008;41(9):649-662.
Wilcken B, Wiley V. Newborn screening. Pathology 2008;40(2):104-115.
Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol 1999;14(Suppl 1):S48.
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;47:194555.
Levy HL. Newborn screening by tandem mass spectrometry: a new era. Clin Chem 1998;44:24012.
Hintz SR, Matern D, Strauss A, Bennet MJ, Hoyme HE, Schelleys S, et al. Early neonatal diagnosis of long chain 3hydroxyacyl conzyme A dehydrogenase and mitochondrial trifunctional protein deficiencies. Mol Genet Metab 2002;75:1207.
Leonard JV, Dezateux C. Screening for inherited metabolic disease in newborn infants using tandem mass spectrometry. BMJ 2002;324:45.
Millington DS, Kodo N, Norwood DL, Roe CR. Tandem Mass Spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inher Metab Dis 1990;13:321-324.
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;111:211-228.
Millington DS, Chace DH. Carnitine and acylcarnitines in metabolic disease diagnosis and management. in: Mass spectrometry: clinical and biomedical applications, vol.I. Desiderio D.M. (ed). Plenum Press, New York. 1992. Pp. 299-316.
Chace DH, Kalas TA. A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing. Clin Biochem. 2005;38(4):296-309.
Chace DH, Naylor EW. Expansion of newborn screening programs using automated tandem mass spectrometry. Mental Retard Develop Disab 1999;5:1504.
Chace DH, Kalas TA, Naylor EW. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem. 2003;49(11):1797-1817.
Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and aminoacid metabolism. J Child Neurol 1999;14(Suppl 1):S48.
Chace DH, Kalas TA, Naylor EW. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet. 2002;3:17-45.
Clague A, Thomas A. Neonatal biochemical screening for disease. Clin Chim Acta 2002;315:99-110.
Chace DH. Mass spectrometry in the clinical laboratory. Chem Rev 2001;101(2):445-477.
Charrow J, Goodman SI, McCabe ERG, Rinaldo P. Tandem mass spectrometry in newborn screening. Genet Med 2000;2:2679.
Chace DH, DiPerna JC, Naylor EW. Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium. Acta Paediatr Suppl. 1999;88(432):45-47.
McCabe LL, McCabe ERB. Newborn screening as a model for population screening. Mol Genet Metab 2002;75:299307.
Clayton PT. Applications of mass spectrometry in the study of inborn errors of metabolism. J Inher Metab Dis 2001;24:139-150.
Nyhan WL.Disorders of purine and pyrimidine metabolism. Mol Genet Metab 2005;86(1-2):25-33.
Csermely T, Kalász H, Petroianu GA, Kuka K, Darvas F, et al. Analysis of pyridinium aldoximes - a chromatographic approach. Curr Med Chem. 2008;15(23):2401-18.
Jensen UG, Brandt NJ, Christensen E, Skovby F, Nogaard-Pedersen B, Simonsen H. Neonatal screening for galactosemia by quantitative analysis of hexose monophosphate using tandem mass spectrometry: a retrospective study. Clin Chem 2001;47:1364-1372.
Mills KA, Mushtaq I, Johnson AW, Whitfield PD, Clayton PT. A method for the quantitation of conjugated bile acids in dried blood spots using electrospray ionization-mass spectrometry. Pediatr Res 1998;43:361-368.
Mushtaq I, Logan S, Morris M, Johnson AW, Wade AM, Kelly D.Screening of newborn infants for cholestatic hepatobiliary disease with tandem mass spectrometry. BMJ 1999;319(7208):471-7.
Wanders RJA, Schutgens RBH, Barth PG. Peroxisomal disorders. In: Blau N, Duran M, Blaskovics ME, editors. Physician‘s guide to the laboratory diagnosis of metabolic diseases, pp. 359-76. Oxford: Chapman & Hall Medical, 1996.
Johnson DW. A rapid screening procedure for the diagnosis of peroxisomal disorders: quantification of very long-chain fatty acids, as dimethylaminoethyl esters, in plasma and blood spots, by electrospray tandem mass spectrometry. J Inherit Metab Dis 2000;23:475-486.
Bootsma AH, Overmars H, van Rooij A, van Lint AE, Wanders RJ, van Gennip AH, et al. Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: application for selective screening of peroxisomal disorders. J Inherit Metab Dis 1999;22:307-310.
Simmonds HA. Purine and pyrimidine disorders. In: Holton JB, editor. The inherited metabolic diseases, London: Churchill Livingstone.1994. pp. 297-349.
Ito T, Van Kuilenburg ABP, Bootsma AH, Haasnoot AJ, Cruchten AV, Wada Y, et al. Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips. Clin Chem 2000;46:445-52.
Shenai JP, Borum PR, Mohan P, Donlevy SC. Carnitine status at birth of newborn infants of varying gestation. Pediatr Res 1983;17:57982.
Giannacopoulou C, Evangeliou A, Matalliotakis I, Relakis K, Sbirakis N, Hatzidaki E, et al. Effects of gestation age and of birth weight in the concentration of carnitine in the umbilical plasma. Clin Exp Obstet Gynecol 1998;25:425.
Bernardi I, Evans MI, Nicolaides KH, Economides DL, Gahl WA. The fetal concentrating index as a gestational ageindependent measure of placental dysfunction in intrauterine growth retardation. Am J Obstet Gynecol 1991;164:14817.
Osorio JH, Pourfarzam M. Carnitina libre y total en sangre de cordón umbilical. Rev Colomb Obstet Ginecol 2002;53:115.
Meyburg J, Schulze A, Kohlmueller D, Linderkamp O, Mayatepek E. Postnatal changes in neonatal acylcarnitine profile. Pediatr Res 2001; 49:1259.
Patterson AL, Pourfarzam M, Henderson MJ. The utility of cord blood analysis in the diagnosis of organic acidaemias. J Inher Metab Dis 2000;23(Suppl 1):84.
Osorio JH, Pourfarzam M. Early diagnosis of neurometabolic diseases by tandem mass spectrometry. acylcarnitine profile from cord blood. Rev Neurol 2004;38:11-16.
Osorio JH, Pourfarzam M. Determination of normal acylcarnitine levels in a healthy pediatric population as a diagnostic tool in inherited errors of mitochondrial fatty acid beta-oxidation. An Pediatr (Barc). 2007;67:548-52.
Osorio JH. Consideraciones específicas para el entendimiento del síndrome de muerte súbita del lactante. Revista Hacia la promoción de la salud 2007;79-88.
Saudubray JM. Inborn errors of metabolism. Semin Neonatol 2002;7:1.
Barba Evia JR. Tamiz neonatal: Una estrategia en la medicina preventiva. Rev Mex Pat Clin 51;3:130-144.
Garrod AE. The incidence of alkaptonuria: a study in chemical individuality. 1902. Mol Med 1996;2(3):274-282.
Følling I. The discovery of phenylketonuria. Acta Paediatr Suppl. 1994;407:4-10.
Dhondt JL. Neonatal screening: from the ‘Guthrie age’ to the ‘genetic age’. J Inherit Metab Dis 2007;30(4):418-422.
Downing M, Pollitt R. Newborn bloodspot screening in the UK--past, present and future. Ann Clin Biochem 2008;45(Pt 1):11-17.
Therrell BL, Adams J. Newborn screening in North America. J Inherit Metab Dis 2007;30(4):447-465.
Alexander D. The National Institute of Child Health and Human Development and phenylketonuria. Pediatrics 2003;112(6 Pt 2):1514-1515.
Kompare M, Rizzo WB. Mitochondrial fatty-acid oxidation disorders. Semin Pediatr Neurol 2008;15(3):140-149.
Rinaldo P, Lim JS, Tortorelli S, Gavrilov D, Matern D.Newborn screening of metabolic disorders: recent progress and future developments. Nestle Nutr Workshop Ser Pediatr Program. 2008;62:81-93; discussion 93-96.
Ho C, Lam C, Chan M, Cheung R, Law L, Lit L, Ng K, Suen M, Tai H. Electrospray ionisation mass spectrometry: principles and clinical applications. Clin Biochem Rev 2003;24(1):3-12.
Daniel Sharer J. An overview of biochemical genetics. Curr Protoc Hum Genet. 2005;17:Unit 17.1.
Vogeser M, Seger C. A decade of HPLC-MS/MS in the routine clinical laboratory-goals for further developments. Clin Biochem. 2008;41(9):649-662.
Wilcken B, Wiley V. Newborn screening. Pathology 2008;40(2):104-115.
Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol 1999;14(Suppl 1):S48.
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;47:194555.
Levy HL. Newborn screening by tandem mass spectrometry: a new era. Clin Chem 1998;44:24012.
Hintz SR, Matern D, Strauss A, Bennet MJ, Hoyme HE, Schelleys S, et al. Early neonatal diagnosis of long chain 3hydroxyacyl conzyme A dehydrogenase and mitochondrial trifunctional protein deficiencies. Mol Genet Metab 2002;75:1207.
Leonard JV, Dezateux C. Screening for inherited metabolic disease in newborn infants using tandem mass spectrometry. BMJ 2002;324:45.
Millington DS, Kodo N, Norwood DL, Roe CR. Tandem Mass Spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inher Metab Dis 1990;13:321-324.
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;111:211-228.
Millington DS, Chace DH. Carnitine and acylcarnitines in metabolic disease diagnosis and management. in: Mass spectrometry: clinical and biomedical applications, vol.I. Desiderio D.M. (ed). Plenum Press, New York. 1992. Pp. 299-316.
Chace DH, Kalas TA. A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing. Clin Biochem. 2005;38(4):296-309.
Chace DH, Naylor EW. Expansion of newborn screening programs using automated tandem mass spectrometry. Mental Retard Develop Disab 1999;5:1504.
Chace DH, Kalas TA, Naylor EW. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem. 2003;49(11):1797-1817.
Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and aminoacid metabolism. J Child Neurol 1999;14(Suppl 1):S48.
Chace DH, Kalas TA, Naylor EW. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet. 2002;3:17-45.
Clague A, Thomas A. Neonatal biochemical screening for disease. Clin Chim Acta 2002;315:99-110.
Chace DH. Mass spectrometry in the clinical laboratory. Chem Rev 2001;101(2):445-477.
Charrow J, Goodman SI, McCabe ERG, Rinaldo P. Tandem mass spectrometry in newborn screening. Genet Med 2000;2:2679.
Chace DH, DiPerna JC, Naylor EW. Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium. Acta Paediatr Suppl. 1999;88(432):45-47.
McCabe LL, McCabe ERB. Newborn screening as a model for population screening. Mol Genet Metab 2002;75:299307.
Clayton PT. Applications of mass spectrometry in the study of inborn errors of metabolism. J Inher Metab Dis 2001;24:139-150.
Nyhan WL.Disorders of purine and pyrimidine metabolism. Mol Genet Metab 2005;86(1-2):25-33.
Csermely T, Kalász H, Petroianu GA, Kuka K, Darvas F, et al. Analysis of pyridinium aldoximes - a chromatographic approach. Curr Med Chem. 2008;15(23):2401-18.
Jensen UG, Brandt NJ, Christensen E, Skovby F, Nogaard-Pedersen B, Simonsen H. Neonatal screening for galactosemia by quantitative analysis of hexose monophosphate using tandem mass spectrometry: a retrospective study. Clin Chem 2001;47:1364-1372.
Mills KA, Mushtaq I, Johnson AW, Whitfield PD, Clayton PT. A method for the quantitation of conjugated bile acids in dried blood spots using electrospray ionization-mass spectrometry. Pediatr Res 1998;43:361-368.
Mushtaq I, Logan S, Morris M, Johnson AW, Wade AM, Kelly D.Screening of newborn infants for cholestatic hepatobiliary disease with tandem mass spectrometry. BMJ 1999;319(7208):471-7.
Wanders RJA, Schutgens RBH, Barth PG. Peroxisomal disorders. In: Blau N, Duran M, Blaskovics ME, editors. Physician‘s guide to the laboratory diagnosis of metabolic diseases, pp. 359-76. Oxford: Chapman & Hall Medical, 1996.
Johnson DW. A rapid screening procedure for the diagnosis of peroxisomal disorders: quantification of very long-chain fatty acids, as dimethylaminoethyl esters, in plasma and blood spots, by electrospray tandem mass spectrometry. J Inherit Metab Dis 2000;23:475-486.
Bootsma AH, Overmars H, van Rooij A, van Lint AE, Wanders RJ, van Gennip AH, et al. Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: application for selective screening of peroxisomal disorders. J Inherit Metab Dis 1999;22:307-310.
Simmonds HA. Purine and pyrimidine disorders. In: Holton JB, editor. The inherited metabolic diseases, London: Churchill Livingstone.1994. pp. 297-349.
Ito T, Van Kuilenburg ABP, Bootsma AH, Haasnoot AJ, Cruchten AV, Wada Y, et al. Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips. Clin Chem 2000;46:445-52.
Shenai JP, Borum PR, Mohan P, Donlevy SC. Carnitine status at birth of newborn infants of varying gestation. Pediatr Res 1983;17:57982.
Giannacopoulou C, Evangeliou A, Matalliotakis I, Relakis K, Sbirakis N, Hatzidaki E, et al. Effects of gestation age and of birth weight in the concentration of carnitine in the umbilical plasma. Clin Exp Obstet Gynecol 1998;25:425.
Bernardi I, Evans MI, Nicolaides KH, Economides DL, Gahl WA. The fetal concentrating index as a gestational ageindependent measure of placental dysfunction in intrauterine growth retardation. Am J Obstet Gynecol 1991;164:14817.
Osorio JH, Pourfarzam M. Carnitina libre y total en sangre de cordón umbilical. Rev Colomb Obstet Ginecol 2002;53:115.
Meyburg J, Schulze A, Kohlmueller D, Linderkamp O, Mayatepek E. Postnatal changes in neonatal acylcarnitine profile. Pediatr Res 2001; 49:1259.
Patterson AL, Pourfarzam M, Henderson MJ. The utility of cord blood analysis in the diagnosis of organic acidaemias. J Inher Metab Dis 2000;23(Suppl 1):84.
Osorio JH, Pourfarzam M. Early diagnosis of neurometabolic diseases by tandem mass spectrometry. acylcarnitine profile from cord blood. Rev Neurol 2004;38:11-16.
Osorio JH, Pourfarzam M. Determination of normal acylcarnitine levels in a healthy pediatric population as a diagnostic tool in inherited errors of mitochondrial fatty acid beta-oxidation. An Pediatr (Barc). 2007;67:548-52.
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