<?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>0035-0052</journal-id>
<journal-title><![CDATA[Revista mexicana de pediatría]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. mex. pediatr.]]></abbrev-journal-title>
<issn>0035-0052</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Mexicana de Pediatría A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0035-00522023000600221</article-id>
<article-id pub-id-type="doi">10.35366/117389</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Resultados del programa de tamiz metabólico en un hospital privado de la Ciudad de México]]></article-title>
<article-title xml:lang="en"><![CDATA[Results of the metabolic screening program in a private hospital in Mexico City]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Velasco-Aznar]]></surname>
<given-names><![CDATA[Alfonso]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rendón-Macías]]></surname>
<given-names><![CDATA[Mario Enrique]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Silva-Ramírez]]></surname>
<given-names><![CDATA[Horacio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gerardo-Del Hoyo]]></surname>
<given-names><![CDATA[Moisés Noé]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cruz-Camino]]></surname>
<given-names><![CDATA[Héctor]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cantú-Reyna]]></surname>
<given-names><![CDATA[Consuelo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Moscona-Nissan]]></surname>
<given-names><![CDATA[Alberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Wollenstein-Seligson]]></surname>
<given-names><![CDATA[Diana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad La Salle Facultad Mexicana de Medicina Hospital Español de México]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Panamericana Facultad de Ciencias de la Salud Escuela de Medicina]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital Español de México División de Pediatría ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad La Salle Hospital Español de México ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Genomi-k  ]]></institution>
<addr-line><![CDATA[Monterrey Nuevo León]]></addr-line>
<country>México</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Universidad Panamericana Escuela de Medicina ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af7">
<institution><![CDATA[,Universidad La Salle Facultad Mexicana de Medicina ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>Mexico</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2023</year>
</pub-date>
<volume>90</volume>
<numero>6</numero>
<fpage>221</fpage>
<lpage>226</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0035-00522023000600221&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0035-00522023000600221&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0035-00522023000600221&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Introducción:  El tamiz metabólico neonatal es una herramienta que permite identificar pacientes con diferentes enfermedades, desde etapas preclínicas.  Objetivo:  Informar la prevalencia al nacimiento de enfermedades metabólicas, detectadas mediante el programa de tamiz metabólico neonatal ampliado de un hospital privado de la Ciudad de México.  Material y métodos:  Estudio transversal y descriptivo, que incluye los resultados de todos los estudios de tamizaje realizados en recién nacidos (RN), en un periodo de siete años (2016-2023). Las muestras de sangre se tomaron por punción entre el segundo y quinto día de vida. Las tasas se presentan en casos por 10,000 nacidos vivos.  Resultados:  En el periodo mencionado, 10,442 RN fueron estudiados. En 41 (0.4%) pacientes se identificó una enfermedad específica, mientras que en 77 se detectaron estados de portador de distintas enfermedades. Las enfermedades que se diagnosticaron fueron: deficiencia de glucosa 6 deshidrogenasa (tasa 31.6), hipotiroidismo congénito (tasa 2.8), fenilcetonuria (tasa 1.9), tirosinemia (tasa 0.95); deficiencia de cadena corta del acil-CoA deshidrogenasa (tasa 0.95) y fibrosis quística (tasa 0.95).  Conclusiones:  Las prevalencias de enfermedades detectadas por tamiz neonatal obtenidas en el presente estudio son semejantes con lo reportado previamente en México, con excepción de la deficiencia de glucosa 6 deshidrogenasa que es mucho más alta.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract:  Introduction:  The neonatal metabolic screen is a tool that allows identifying patients with different diseases, from preclinical stages.  Objective:  To report the birth prevalence of metabolic diseases detected through the expanded neonatal metabolic screening program of a private hospital in Mexico City.  Material and methods:  Cross-sectional and descriptive study, which includes the results of all screening studies performed on newborns, over a seven-year period (2016-2023). Blood samples were taken by puncture between the second and fifth day of life. Rates are presented in cases per 10,000 live births.  Results:  During the period, 10,442 newborns were studied. A specific disease was identified in 41 (0.4%) patients, while carrier states of different diseases were detected in 77. The diseases diagnosed were: glucose-6 dehydrogenase deficiency (rate 31.6), congenital hypothyroidism (rate 2.8), phenylketonuria (rate 1.9), tyrosinemia (rate 0.95), short-chain acyl-CoA dehydrogenase deficiency (rate 0.95), and cystic fibrosis (rate 0.95).  Conclusions:  The prevalence of diseases detected by neonatal screening obtained in the present study is similar to that previously reported in Mexico, with the exception of glucose 6 dehydrogenase deficiency, which is higher.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[tamiz metabólico]]></kwd>
<kwd lng="es"><![CDATA[recién nacidos]]></kwd>
<kwd lng="es"><![CDATA[prevalencia]]></kwd>
<kwd lng="es"><![CDATA[tasa]]></kwd>
<kwd lng="es"><![CDATA[diagnóstico]]></kwd>
<kwd lng="es"><![CDATA[enfermedades raras]]></kwd>
<kwd lng="en"><![CDATA[metabolic screening]]></kwd>
<kwd lng="en"><![CDATA[newborn]]></kwd>
<kwd lng="en"><![CDATA[prevalence]]></kwd>
<kwd lng="en"><![CDATA[rate]]></kwd>
<kwd lng="en"><![CDATA[diagnosis]]></kwd>
<kwd lng="en"><![CDATA[rare diseases]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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