Tamiz de los errores innatos del metabolismo por espectrometría de masas en tándem: principales biomarcadores

The use of tandem mass spectrometry for the diagnosis of inborn errors of metabolism has the potential to expand the newborn screening panel to include a vast number of diseases. This technology allows the detection, in the same spot of dried blood on filter paper and during one single analytical ru...

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Autor principal:	Campos H,Derbis
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2011
Materias:	Amino acid metabolism, inborn errors Phenylketonurias Spectrum analysis
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011001000017
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spelling	oai:scielo:S0034-988720110010000172012-01-03Tamiz de los errores innatos del metabolismo por espectrometría de masas en tándem: principales biomarcadoresCampos H,Derbis Amino acid metabolism, inborn errors Phenylketonurias Spectrum analysis The use of tandem mass spectrometry for the diagnosis of inborn errors of metabolism has the potential to expand the newborn screening panel to include a vast number of diseases. This technology allows the detection, in the same spot of dried blood on filter paper and during one single analytical run, of different metabolic diseases. Tandem mass spectrometry is rapidly replacing the classical screening techniques approach of one-metabolite detected per analysis per disease by its ability of simultaneous quantification of several metabolites as markers of many diseases, such as acylcarnitines and amino acids. It is clear that a single metabolite can be a biomarker for several diseases, so the multiplex approach of using tandem mass spectrometry enhances, on average, the sensitivity and specificity of the screening. However, there are differences for particular metabolites and the diseases they detect within the same method. Disorders such as the tyrosinemias and among the organic acidemias, the methylmalonic acidemias, have a substantially higher false-positive rate than other more common metabolic diseases such as medium-chain acyl-CoA dehydrogenase deficiency and phenylketonuria. Before introducing this technology into routine newborn screening programs it is necessary to consider the frequency of each disease, as well as the response to early treatment or variables related to the collection of the sample.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.139 n.10 20112011-10-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011001000017es10.4067/S0034-98872011001000017
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Amino acid metabolism, inborn errors Phenylketonurias Spectrum analysis
spellingShingle	Amino acid metabolism, inborn errors Phenylketonurias Spectrum analysis Campos H,Derbis Tamiz de los errores innatos del metabolismo por espectrometría de masas en tándem: principales biomarcadores
description	The use of tandem mass spectrometry for the diagnosis of inborn errors of metabolism has the potential to expand the newborn screening panel to include a vast number of diseases. This technology allows the detection, in the same spot of dried blood on filter paper and during one single analytical run, of different metabolic diseases. Tandem mass spectrometry is rapidly replacing the classical screening techniques approach of one-metabolite detected per analysis per disease by its ability of simultaneous quantification of several metabolites as markers of many diseases, such as acylcarnitines and amino acids. It is clear that a single metabolite can be a biomarker for several diseases, so the multiplex approach of using tandem mass spectrometry enhances, on average, the sensitivity and specificity of the screening. However, there are differences for particular metabolites and the diseases they detect within the same method. Disorders such as the tyrosinemias and among the organic acidemias, the methylmalonic acidemias, have a substantially higher false-positive rate than other more common metabolic diseases such as medium-chain acyl-CoA dehydrogenase deficiency and phenylketonuria. Before introducing this technology into routine newborn screening programs it is necessary to consider the frequency of each disease, as well as the response to early treatment or variables related to the collection of the sample.
author	Campos H,Derbis
author_facet	Campos H,Derbis
author_sort	Campos H,Derbis
title	Tamiz de los errores innatos del metabolismo por espectrometría de masas en tándem: principales biomarcadores
title_short	Tamiz de los errores innatos del metabolismo por espectrometría de masas en tándem: principales biomarcadores
title_full	Tamiz de los errores innatos del metabolismo por espectrometría de masas en tándem: principales biomarcadores
title_fullStr	Tamiz de los errores innatos del metabolismo por espectrometría de masas en tándem: principales biomarcadores
title_full_unstemmed	Tamiz de los errores innatos del metabolismo por espectrometría de masas en tándem: principales biomarcadores
title_sort	tamiz de los errores innatos del metabolismo por espectrometría de masas en tándem: principales biomarcadores
publisher	Sociedad Médica de Santiago
publishDate	2011
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011001000017
work_keys_str_mv	AT camposhderbis tamizdeloserroresinnatosdelmetabolismoporespectrometriademasasentandemprincipalesbiomarcadores
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Tamiz de los errores innatos del metabolismo por espectrometría de masas en tándem: principales biomarcadores

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