<?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>1665-1146</journal-id>
<journal-title><![CDATA[Boletín médico del Hospital Infantil de México]]></journal-title>
<abbrev-journal-title><![CDATA[Bol. Med. Hosp. Infant. Mex.]]></abbrev-journal-title>
<issn>1665-1146</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud, Hospital Infantil de México Federico Gómez]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1665-11462024000700001</article-id>
<article-id pub-id-type="doi">10.24875/bmhim.24000025</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Consenso mexicano de tirosinemia tipo 1]]></article-title>
<article-title xml:lang="en"><![CDATA[Mexican consensus on tyrosinemia type 1]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Zárate-Mondragón]]></surname>
<given-names><![CDATA[Flora E.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Alcántara-García]]></surname>
<given-names><![CDATA[Renata I.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Belmont-Martínez]]></surname>
<given-names><![CDATA[Leticia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Consuelo-Sánchez]]></surname>
<given-names><![CDATA[Alejandra]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fernández-Hernández]]></surname>
<given-names><![CDATA[Liliana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Flores-Calderón]]></surname>
<given-names><![CDATA[Judith]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González-Ortiz]]></surname>
<given-names><![CDATA[Beatriz]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Guillén-López]]></surname>
<given-names><![CDATA[Sara]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hernández-Chávez]]></surname>
<given-names><![CDATA[Elizabeth]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hernández-Vez]]></surname>
<given-names><![CDATA[Gabriela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[López-Mejía]]></surname>
<given-names><![CDATA[Lizbeth]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ignorosa-Arellano]]></surname>
<given-names><![CDATA[Karen R.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Medina-Vega]]></surname>
<given-names><![CDATA[Francisco A.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Reyes-Apodaca]]></surname>
<given-names><![CDATA[Magali]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Yokoyama-Rebollar]]></surname>
<given-names><![CDATA[Emiy]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vela-Amieva]]></surname>
<given-names><![CDATA[Marcela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto Nacional de Pediatría Servicio de Gastroenterología y Nutrición ]]></institution>
<addr-line><![CDATA[ Ciudad de México]]></addr-line>
<country>México</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Regional de Alta Especialidad del Bajío Clínica de Errores Innatos del Metabolismo ]]></institution>
<addr-line><![CDATA[Guanajuato ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Instituto Nacional de Pediatría Laboratorio de Errores Innatos del Metabolismo y Tamiz ]]></institution>
<addr-line><![CDATA[ Ciudad de México]]></addr-line>
<country>México</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital Infantil de México Federico Gómez Departamento de Gastroenterología y Nutrición ]]></institution>
<addr-line><![CDATA[ Ciudad de México]]></addr-line>
<country>México</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Instituto Nacional de Pediatría Laboratorio de Biología Molecular ]]></institution>
<addr-line><![CDATA[ Ciudad de México]]></addr-line>
<country>México</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Unidad de Medicina de Alta Especialidad Servicio de Gastroenterología y Nutrición del Hospital de Pediatría ]]></institution>
<addr-line><![CDATA[ Ciudad de México]]></addr-line>
<country>México</country>
</aff>
<aff id="Af7">
<institution><![CDATA[,Instituto Mexicano del Seguro social (IMSS) Hospital de Pediatría, Centro Médico Nacional de Occidente Servicio de Gastroenterología y Nutrición Pediátrica de la Unidad de Medicina de Alta Especialidad]]></institution>
<addr-line><![CDATA[Guadalajara ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af8">
<institution><![CDATA[,Práctica privada  ]]></institution>
<addr-line><![CDATA[Oaxaca ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af9">
<institution><![CDATA[,Instituto Nacional de Pediatría Departamento de Cirugía General y Trasplantes ]]></institution>
<addr-line><![CDATA[ Ciudad de México]]></addr-line>
<country>México</country>
</aff>
<aff id="A10">
<institution><![CDATA[,Hospital Infantil de México Federico Gómez Unidad de Investigación y Diagnóstico en Nefrología y Metabolismo Mineral Óseo ]]></institution>
<addr-line><![CDATA[ Ciudad de México]]></addr-line>
<country>México</country>
</aff>
<aff id="A11">
<institution><![CDATA[,Instituto Nacional de Pediatría Departamento de Genética Humana ]]></institution>
<addr-line><![CDATA[ Ciudad de México]]></addr-line>
<country>México</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2024</year>
</pub-date>
<volume>81</volume>
<fpage>1</fpage>
<lpage>13</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462024000700001&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462024000700001&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462024000700001&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: La tirosinemia tipo 1 es una enfermedad rara, con herencia autosómica recesiva, con múltiples manifestaciones clínicas, que pueden comprender desde falla hepática aguda neonatal, síndrome colestásico neonatal, hepatitis crónica, cirrosis o hepatocarcinoma, hasta alteraciones renales como acidosis tubular renal, síndrome de Fanconi o raquitismo hipofosfatémico, entre otras. El diagnóstico se basa en la presencia de metabolitos tóxicos en la sangre y la orina, idealmente con la confirmación molecular de la enfermedad.  Método: Se realizó un consenso con expertos en el área de los errores innatos del metabolismo (EIM): ocho gastroenterólogos pediatras, dos médicos especialistas en EIM, dos genetistas, tres nutriólogas pediatras especializadas en EIM y un cirujano pediatra especialista en trasplantes. Se formaron seis mesas de trabajo encargadas de desarrollar los enunciados con sus justificaciones y fueron votados anónimamente 32 enunciados en una escala Likert con un método Delphi. La primera votación fue virtual, obteniendo consenso del 80% de los enunciados, y la segunda fue presencial, obteniendo el 20% restante.  Resultados: Los enunciados fueron divididos en epidemiología, cuadro clínico, diagnóstico, tratamiento nutricional y médico, y consejo genético.  Conclusiones: Este consenso constituye una valiosa herramienta para los médicos de atención primaria, pediatras y gastroenterólogos pediátricos, ya que ayuda a diagnosticar y tratar rápidamente esta enfermedad. Su impacto en la morbilidad y mortalidad de los pacientes con tirosinemia tipo 1 es sustancial.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction: Tyrosinemia type 1 is a rare disease with autosomal recessive inheritance, featuring various clinical manifestations. These may encompass acute neonatal liver failure, neonatal cholestatic syndrome, chronic hepatitis, cirrhosis, hepatocellular carcinoma, and, alternatively, kidney disorders like renal tubular acidosis, Fanconi syndrome, hypophosphatemic rickets, among other alterations. Diagnosis relies on detecting toxic metabolites in the blood and urine, ideally confirmed through molecular testing.  Method: A consensus was reached with experts in the field of inborn errors of metabolism (EIM), including eight pediatric gastroenterologists, two EIM specialists, two geneticists, three pediatric nutritionists specialized in EIM, and a pediatric surgeon specializing in transplants. Six working groups were tasked with formulating statements and justifications, and 32 statements were anonymously voted on using the Likert scale and the Delphi method. The first virtual vote achieved an 80% consensus, with the remaining 20% determined in person.  Results: The statements were categorized into epidemiology, clinical presentation, diagnosis, nutritional and medical treatment, and genetic counseling.  Conclusions: This consensus serves as a valuable tool for primary care physicians, pediatricians, and pediatric gastroenterologists, aiding in the prompt diagnosis and treatment of this disease. Its impact on the morbidity and mortality of patients with tyrosinemia type 1 is substantial.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Tirosinemia tipo 1]]></kwd>
<kwd lng="es"><![CDATA[Falla hepática neonatal]]></kwd>
<kwd lng="es"><![CDATA[Cirrosis]]></kwd>
<kwd lng="es"><![CDATA[Hepatocarcinoma]]></kwd>
<kwd lng="es"><![CDATA[Raquitismo hipofosfatémico]]></kwd>
<kwd lng="en"><![CDATA[Tyrosinemia type 1]]></kwd>
<kwd lng="en"><![CDATA[Neonatal liver failure]]></kwd>
<kwd lng="en"><![CDATA[Cirrhosi]]></kwd>
<kwd lng="en"><![CDATA[Hepatocellular carcinoma]]></kwd>
<kwd lng="en"><![CDATA[Hypophosphatemic rickets]]></kwd>
</kwd-group>
</article-meta>
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