Conceptos Categóricos

PESQUISA DE ERRORES CONGENITOS DEL METABOLISMO

PESQUISA DE ERRORES CONGENITOS DEL METABOLISMO

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La introducción de la nueva tecnología de la espectrometría de masas en tándem ha permitido el crecimiento espectacular de los programas de pesquisa neonatales para detectar más trastornos a una edad más temprana.
sewell9.jpg Autor:
Adrian C. Sewell
Columnista Experto de SIIC
Artículos publicados por Adrian C. Sewell
Recepción del artículo
30 de Enero, 2007
Aprobación
1 de Marzo, 2007
Primera edición
16 de Agosto, 2007
Segunda edición, ampliada y corregida
7 de Junio, 2021

Resumen
Durante los últimos años, nuestro conocimiento de las bases anatomopatológicas y moleculares de las metabolopatías congénitas ha aumentado ampliamente. La identificación de metabolitos patológicos es la piedra fundamental de todas las pruebas de pesquisa disponibles, tanto neonatales como selectivas. La introducción de una nueva tecnología (espectrometría de masas en tándem) ha permitido un crecimiento espectacular de los programas de pesquisa neonatales para detectar más trastornos a una edad más temprana, aunque no sin problemas. Este artículo intenta reproducir los últimos adelantos en la pesquisa de los errores congénitos del metabolismo sin, esperamos, destruir demasiado el entusiasmo.

Palabras clave
errores congénitos del metabolismo, monitoreo neonatal, monitoreo selectivo, espectrometría de masa seriada


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Abstract
Over the last few years, our understanding of the pathological and molecular basis of inborn errors of metabolism has vastly increased. The identification of pathological metabolites is the cornerstone of all available screening tests, both newborn and selective. The introduction of new technology (tandem mass spectrometry) has enabled a dramatic expansion of newborn screening programmes to detect more disorders at an early age, although not without problems. This article attempts to portray the latest developments in screening for inborn errors of metabolism without hopefully destroying too much of the euphoria!

Key words
inborn errors of metabolism, newborn screening, selective screening, tandem mass spectrometry


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Clasificación en siicsalud
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Especialidades
Principal: Pediatría
Relacionadas: Bioquímica, Diagnóstico por Laboratorio, Endocrinología y Metabolismo, Genética Humana, Medicina Familiar, Salud Pública



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Adrian C. Sewell, University Children's Hospital Frankfurt am Main Department of Paediatrics, 60590, Theodor-Stern-Kai 7, Frankfurt, Alemania
Bibliografía del artículo
1. Garrod AE. The incidence of alkaptonuria: a study in chemical individuality. Lancet II:1616-1620, 1902.
2. Garrod AE. Inborn errors of metabolism. Oxford University Press, Oxford, 1909.
3. La Du BN, Zannoni VG, Laster L, Seegmiller JE. The nature of the defect in tyrosine metabolism in alkaptonuria. J Biol Chem 230:251-260, 1958.
4. Rodriguez JM, Timm DE, Titus GP et al. Structural and functional analysis of mutations in alkaptonuria. Hum Mol Genet 15:2341-2350, 2000.
5. Scriver CR, Sly WS, Childs B, Beaudet AL, Valle D, Kinzler KW, Vogelstein B. The molecular and metabolic bases of inherited disease. McGraw-Hill New York, 2001.
6. Spranger J. Changes in clinical practice with the unravelling of diseases: connective tissue disorders. J Inherit Metab Dis 24:117-125, 2001.
7. Dent CE. The amino-aciduria in Fanconi syndrome: a study making extensive use of techniques based on paper partition chromatography. Biochem J 41:240-244, 1947.
8. Bickel H, Gerrard J, Hickmans EM. The influence of phenylalanine intake on the chemistry and behaviour of a phenylketonuric child. Acta Paediatrica 43:64-77, 1954.
9. Fölling A. Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselsanomalie in Verbinding mit Imbezilität. Zschr Physiol Chem 227:169-176, 1935.
10. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32:338-343, 1963.
11. Millington D, Kodo N, Terada N, Roe CR, Chace D. 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 Spectrom Ion Process 111:211-228, 1991.
12. Chace DH, Kalas TA, Naylor EW Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem 49:1797-1817, 2003.
13. Schulze A, Lindner M, Kohlmüller D, Olgemüller K, Mayatepek E, Hoffmann GF. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome and implications. Pediatrics 111:1399-1406, 2003.
14. Pollitt RJ. International perspectives on newborn screening. J Inherit Metab Dis 29:390-396, 2006.
15. Wilson JMG, Jungner G. Principles of screening for disease. WHO, Geneva, 1968.
16. Schweitzer-Kranz S. Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia. Eur J Pediatr 162:S50-S53, 2003.
17. Wilcken B. Mini-symposium: newborn screening for inborn errors of metabolism - clinical effectiveness. J Inherit Metab Dis 29:366-369, 2006.
18. Rhead WJ. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. J Inherit Metab Dis 29:370-377, 2006.
19. Boneh A, Andresen BS, Gregersen N, Ibrahim M, Tzanakos N, Peters H, Yaplito-Lee J, Pitt JJ. VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol Genet Metab 88:166-170, 2006.
20. Waisbren SE, Albers S, Amato S et al. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 290:2564-2572, 2003.
21. Tarini BA, Christakis DA, Welch HG. State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results. Pediatrics 118:448-456, 2006.
22. Sewell AC, Gebhardt B, Herwig J, Rauterberg EW. Acceptance of extended newborn screening: the problem of parental compliance. Eur J Pediatr 163:755-756, 2004.
23. Tanaka K, Budd MA, Efron ML, Isselbacher KJ. Isovaleric academia: a new genetic defect of leucine metabolism. Proc Natl Acad Sci USA 56:236-242, 1966.
24. Sass JO, Sewell AC. Gas chromatography-mass spectrometry for selective screening for inborn errors of metabolism. In: Niessen W (ed) Current Practice in GCMS. Marcel Dekker, New York, 341-354, 2001.
25. Struys EA, Jansen EEW, Verhoeven NM, Jakobs C Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatisation with diacetyl-L-tartaric anhydride. Clin Chem 50:1391-1395, 2004.
26. Mayatepek E. Leukotriene C4 synthesis deficiency: a member of probably underdiagnosed new group of neurometabolic diseases. Eur J Pediatr 159:811-818, 2000.
27. Mills KA, Johnson AW, Diettrich O, Clayton PT, Winchester BG. A strategy for the identification of site-specific glycosylation in proteins using MALDI-TOF MS. Tetrahedron: Asymmentry 11:75-93, 2000.
28. Moolenaar SH, Engelke UFH, Hoenderop SMGC, Sewell AC, Wagner L, Wevers RA. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism. SHS Press Heilbronn, 2002.
29. Moolenaar SH, van der Knaap MS, Engelke UF et al. In-vivo and in-vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism. NMR Biomed 14:167-176, 2001.
30. Schulze A, Hess T, Wevers RA et al. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatr 131:510-511, 1997.
31. Moolenaar SH, Göhlich-Ratmann G, Engelke UFH et al. ß-Ureidopropionase deficiency, a novel inborn error of metabolism discovered using NMR spectroscopy on urine. Magn Reson Med 46:1014-1017, 2001.
32. La Marca G, Casetta B, Malvagia S et al. Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples. J Mass Spectrom 41:1442-1452, 2006.
33. Tortorelli S, Hubbard WC, Moser AB, Liu A, Jones D, Moser H. Screening for X-linked adrenoleukodystrophy by liquid chromatography-tandem mass spectrometry. J Inherit Metab Dis 29 (Suppl 1):54, 2006.
34. Young E, Mills K, Morris P et al. Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatrica 94(Suppl 447):51-54, 2005.
35. Clements PR, Fuller M, Meikle PJ, Hopwood JJ. Urine screening for lysosomal storage disorders by tandem mass spectrometry. J Inherit Metab Dis 29(Suppl 1):41, 2006.
36. Longo N Inborn errors of metabolism: new challenges with expanded newborn screening programs. Am J Med genet Part C Semin Med Genet 142C:61-63, 2006.
37. Alexander D, Van Dyck PC. A vision of the future of newborn screening. Pediatrics 117:5350-5354, 2006.
38. Green NS, Pass KA. Neonatal screening by DNA microarray: spots and chips. Nat Rev Genet 6:147-151, 2005.
39. Fletcher JM. Screening for lysosomal storage disorders - a clinical perspective. J Inherit Metab Dis 29:405-408, 2006.
40. Gelb MH, Turecek F, Scott CR, Chamoles NA. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis 29:397-404, 2006.
41. Meikle PJ, Grasby DJ, Dean CJ et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab 88:307-314, 2006.

 
 
 
 
 
 
 
 
 
 
 
 
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