PESQUISA DE ERRORES CONGENITOS DEL METABOLISMO





PESQUISA DE ERRORES CONGENITOS DEL METABOLISMO

(especial para SIIC © Derechos reservados)
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
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