<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0016-3813</journal-id>
<journal-title><![CDATA[Gaceta médica de México]]></journal-title>
<abbrev-journal-title><![CDATA[Gac. Méd. Méx]]></abbrev-journal-title>
<issn>0016-3813</issn>
<publisher>
<publisher-name><![CDATA[Academia Nacional de Medicina de México A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0016-38132025000100005</article-id>
<article-id pub-id-type="doi">10.24875/gmm.m25000957</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Diagnóstico de los errores innatos del metabolismo mediante secuenciación masiva de ADN: beneficios y limitaciones]]></article-title>
<article-title xml:lang="en"><![CDATA[Diagnosis of inborn errors of metabolism through massive DNA sequencing: benefits and limitations]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ordóñez-Labastida]]></surname>
<given-names><![CDATA[Vianey]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A3"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Zenteno]]></surname>
<given-names><![CDATA[Juan C.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A4"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto de Oftalmología Conde de Valenciana Departmento de Genética ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Nacional Autónoma de México Facultad de Medicina Unidad de Diagnóstico de Enfermedades Raras]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Autónoma del Estado de Morelos Facultad de Medicina ]]></institution>
<addr-line><![CDATA[Cuernavaca Morelos]]></addr-line>
<country>México</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad Nacional Autónoma de México Departamento de Bioquímica Facultad de Medicina]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>México</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>02</month>
<year>2025</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>02</month>
<year>2025</year>
</pub-date>
<volume>161</volume>
<numero>1</numero>
<fpage>29</fpage>
<lpage>34</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0016-38132025000100005&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0016-38132025000100005&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0016-38132025000100005&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen Los errores innatos del metabolismo (EIM) son enfermedades hereditarias causadas por alteraciones en genes involucrados en vías metabólicas de ácidos grasos, carbohidratos y proteínas. Aun cuando los programas de tamizaje neonatal han sido aplicados exitosamente desde hace varias décadas para identificar de manera oportuna a recién nacidos con EIM tratables y así disminuir la morbilidad y mortalidad asociada, la mayoría de los EIM no pueden ser identificados mediante cribado bioquímico. En años recientes, las tecnologías de secuenciación de ADN de nueva generación (NGS, también conocida como secuenciación masiva en paralelo) han revolucionado el diagnóstico de las enfermedades monogénicas, incluidos los EIM, mediante la aplicación de secuenciación de paneles de genes, secuenciación de exoma y secuenciación de genoma. En esta revisión narrativa, se presenta bibliografía seleccionada para mostrar un panorama general del estado actual del diagnóstico genético de los EIM con base en NGS, así como las limitaciones inherentes de esta tecnología. La NGS ha demostrado la capacidad de identificar a recién nacidos con enfermedades metabólicas que no podrían ser reconocidas sino hasta después del inicio de los síntomas. De manera importante, un subgrupo de estos pacientes recibe el beneficio de tratamientos individualizados oportunos.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Inborn errors of metabolism (IEM) are inherited disorders resulting from genetic defects in proteins involved in breakdown or storage of fatty acids, carbohydrates and proteins. Collectively, IEM encompasses approximately 1000 different disorders and can affect up to 1 in 2000 births. While biochemical newborn screening programs have been successfully applied to early identify newborns with treatable IEM conditions and to reduce their associated morbidity and mortality, the great majority of known IEM are not recognizable through biochemical screening. In recent years, next generation DNA sequencing technologies (including sequencing of gene panels, exome sequencing, and genome sequencing) has revolutionized the genetic diagnosis of monogenic diseases, including IEM. Here, we present a narrative review with selected bibliography to show a general landscape about the status of NGS-based IEM diagnosis as well as its intrinsic limitations. NGS can detect newborns with metabolic diseases that may otherwise be clinically unrecognized until symptoms start. Importantly, a subgroup of these newborns will benefit from individualized medical management.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Errores innatos del metabolismo]]></kwd>
<kwd lng="es"><![CDATA[Mutación]]></kwd>
<kwd lng="es"><![CDATA[Secuenciación de exoma]]></kwd>
<kwd lng="es"><![CDATA[Secuenciación masiva del ADN]]></kwd>
<kwd lng="en"><![CDATA[Inborn errors of metabolism]]></kwd>
<kwd lng="en"><![CDATA[Mutation]]></kwd>
<kwd lng="en"><![CDATA[Exome sequencing]]></kwd>
<kwd lng="en"><![CDATA[Massive DNA sequencing]]></kwd>
</kwd-group>
</article-meta>
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<article-title xml:lang=""><![CDATA[Expanded newborn screening using genome sequencing for early actionable conditions]]></article-title>
<source><![CDATA[JAMA]]></source>
<year>2025</year>
<volume>333</volume>
<numero>3</numero>
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