<?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>S0016-38132022000500275</article-id>
<article-id pub-id-type="doi">10.24875/gmm.22000027</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Enfermedad de Pompe de inicio infantil en siete niños mexicanos]]></article-title>
<article-title xml:lang="en"><![CDATA[Infantile-onset Pompe disease in seven Mexican children]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sánchez-Sánchez]]></surname>
<given-names><![CDATA[Luz M.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ávila-Rejón]]></surname>
<given-names><![CDATA[Carmen]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Díaz-Martínez]]></surname>
<given-names><![CDATA[Rubicel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Díaz-Murillo]]></surname>
<given-names><![CDATA[Brenda]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Kazakova]]></surname>
<given-names><![CDATA[Ekaterina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[López-Valdez]]></surname>
<given-names><![CDATA[Jaime]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martínez-Montoya]]></surname>
<given-names><![CDATA[Valentina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Olaiz-Urbina]]></surname>
<given-names><![CDATA[Julio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Radillo-Díaz]]></surname>
<given-names><![CDATA[Pablo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ricárdez-Marcial]]></surname>
<given-names><![CDATA[Edgar]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sandoval-Pacheco]]></surname>
<given-names><![CDATA[Roberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Torres-Octavo]]></surname>
<given-names><![CDATA[Benjamín]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vergara-Sánchez]]></surname>
<given-names><![CDATA[Imelda]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto Mexicano del Seguro Social Hospital de Especialidades 25 Servicio de Pediatría]]></institution>
<addr-line><![CDATA[Ciudad de México Nuevo León]]></addr-line>
<country>México</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto Mexicano del Seguro Social Hospital de Especialidades 14 Servicio de Genética]]></institution>
<addr-line><![CDATA[Veracruz ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Secretaría de Salud Hospital Regional de Alta Especialidad del Niño &#8220;Dr. Rodolfo Nieto Padrón&#8221; Servicio de Genética]]></institution>
<addr-line><![CDATA[Ciudad de México Tabasco]]></addr-line>
<country>México</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Instituto Mexicano del Seguro Social Hospital General de Zona 1 Servicio de Pediatría]]></institution>
<addr-line><![CDATA[Ciudad de México Baja California Sur]]></addr-line>
<country>México</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Sanofi Alta Especialidad Departamento Médico de Enfermedades Raras ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Secretaría de Salud Centenario Hospital &#8220;Miguel Hidalgo&#8221; Servicio de Genética]]></institution>
<addr-line><![CDATA[Aguascalientes ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af7">
<institution><![CDATA[,Instituto Mexicano del Seguro Social Centro Médico Nacional La Raza Servicio de Genética]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af8">
<institution><![CDATA[,Secretaría de la Defensa Nacional Hospital Central Militar Servicio de Urgencias de Pediatría]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af9">
<institution><![CDATA[,Instituto Nacional de Ciencias Médicas y Nutrición &#8220;Salvador Zubirán&#8221; Laboratorio de Fibra Nerviosa Delgada ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>México</country>
</aff>
<aff id="A10">
<institution><![CDATA[,Instituto Mexicano del Seguro Social Unidad Médica de Alta Especialidad Servicio de Neurología Pediátrica]]></institution>
<addr-line><![CDATA[Ciudad de México Yucatán]]></addr-line>
<country>México</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>10</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>10</month>
<year>2022</year>
</pub-date>
<volume>158</volume>
<numero>5</numero>
<fpage>275</fpage>
<lpage>280</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0016-38132022000500275&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0016-38132022000500275&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0016-38132022000500275&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: La enfermedad de Pompe (EP) es una forma rara de miopatía metabólica; la presentación infantil clásica es severa y el fallecimiento acontece antes del año de vida, y la forma no clásica es de progresión más lenta y la sobrevivencia puede superar el año.  Objetivo: Describir genotipo y características de pacientes mexicanos con EP de inicio infantil.  Métodos: Se incluyeron siete pacientes con enfermedad confirmada mediante actividad enzimática y estudio molecular del gen GAA. Se revisaron las mutaciones en bases de datos genómicas.  Resultados: La mediana de la edad de inicio de los síntomas fue de cuatro meses (1-12 meses) y la edad de diagnóstico fue de ocho meses (4-16 meses). Todos los pacientes tenían cardiomiopatía: cuatro que fallecieron antes del año presentaron mutaciones que predicen enfermedad severa (c.2431dup, c.2560C&gt;T, c.655G&gt;A, c.1987delC) y CRIM (cross-reactive immunologic material) negativo; tres sobrevivieron después del año de edad con terapia de reemplazo enzimático, uno casi cinco años, otro 18 meses y una niña tenía casi tres años al momento de este informe; sus variantes patogénicas predecían enfermedad potencialmente menos severa (c.1979G&gt;A, c.655G&gt;A, c.1447G&gt;A) y CRIM positivo.  Conclusión: Existió buena correlación entre genotipo y fenotipo en niños con enfermedad de Pompe.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction: Pompe disease (PD) is a rare form of metabolic myopathy; the classic infantile presentation is severe, with death occurring before reaching one year of life, and the non-classical form is of slower progression and survival can exceed one year.  Objective: To describe the genotype and characteristics of Mexican patients with infantile-onset PD.  Methods: Seven patients with PD confirmed by enzymatic activity determination and GAA gene molecular analysis were included. Mutations were reviewed in genomic databases.  Results: Median age at symptom onset was four months (1-12 months) and age at diagnosis was eight months (4-16 months). All patients had cardiomyopathy: four who died before one year of age had mutations that predicted severe disease (c.2431dup, c.2560C&gt;T, c.655G&gt;A, c.1987delC) and were negative for cross-reactive immunologic material (CRIM). Three patients survived after one year of age with enzyme replacement therapy; one survived almost five years, another 18 months, and one girl was almost three years of age at the time of this report; their pathogenic variants predicted potentially less severe disease (c.1979G&gt;A, c.655G&gt;A, c.1447G&gt;A) and they were positive for CRIM.  Conclusion: There was a good correlation between genotype and phenotype in children with Pompe disease.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Enfermedad de Pompe infantil]]></kwd>
<kwd lng="es"><![CDATA[Miopatía metabólica]]></kwd>
<kwd lng="es"><![CDATA[Niños]]></kwd>
<kwd lng="en"><![CDATA[Infantile Pompe disease]]></kwd>
<kwd lng="en"><![CDATA[Metabolic myopathy]]></kwd>
<kwd lng="en"><![CDATA[Children]]></kwd>
</kwd-group>
</article-meta>
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