<?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>1688-1249</journal-id>
<journal-title><![CDATA[Archivos de Pediatría del Uruguay]]></journal-title>
<abbrev-journal-title><![CDATA[Arch. Pediatr. Urug.]]></abbrev-journal-title>
<issn>1688-1249</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Uruguaya de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-12492021000301307</article-id>
<article-id pub-id-type="doi">10.31134/ap.92.2.13</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Porfiria hepato eritropoyética asociada a diabetes mellitus tipo 1. A propósito de un caso clínico]]></article-title>
<article-title xml:lang="en"><![CDATA[A clinical case of hepato-erythropoietic porphyria associated with type 1 diabetes mellitus]]></article-title>
<article-title xml:lang="pt"><![CDATA[Relato de caso de porfiria hepato-eritropoiética associada a diabetes mellitus tipo 1]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González]]></surname>
<given-names><![CDATA[Verónica]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Zabala]]></surname>
<given-names><![CDATA[Cristina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mastroianni]]></surname>
<given-names><![CDATA[Lucía]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cabrera]]></surname>
<given-names><![CDATA[Ángela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lemes]]></surname>
<given-names><![CDATA[Aída]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,BPS Instituto de Seguridad Social CRENADECER]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af2">
<institution><![CDATA[,BPS Instituto de Seguridad Social Policlínica Errores Innatos del Metabolismo. CRENADECER]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af3">
<institution><![CDATA[,BPS Instituto de Seguridad Social Policlínica Errores Innatos del Metabolismo. CRENADECER]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af4">
<institution><![CDATA[,BPS Instituto de Seguridad Social Policlínica Errores Innatos del Metabolismo. CRENADECER]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af5">
<institution><![CDATA[,BPS Instituto de Seguridad Social Policlínica Errores Innatos del Metabolismo. CRENADECER]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2021</year>
</pub-date>
<volume>92</volume>
<numero>2</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-12492021000301307&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-12492021000301307&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-12492021000301307&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: Las porfirias son un grupo complejo y heterogéneo de defectos en la vía de la síntesis del hemo. La porfiria hepato eritropoyética es un subtipo muy poco frecuente y de presentación en la infancia, con compromiso cutáneo predominante. Describimos el caso clínico de una paciente de 5 años, que se presenta con lesiones cutáneas e hipertricosis, se confirma el diagnóstico por elevación de uroporfirinas en orina y secuenciación del gen UROD.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Summary: Porphyria is a complex and heterogeneous group of heme synthesis disorder. Hepato-erythropoietic porphyria is a very rare subtype that onsets in childhood, and shows predominant skin involvement. We describe the clinical case of a 5-year-old patient who showed skin lesions and hypertrichosis and whose diagnosis was confirmed due to increased uroporphyrins in urine and UROD gene sequencing]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo: A porfiria é um grupo complexo e heterogêneo de distúrbios da síntese do grupo heme. A porfiria hepato-eritropoiética é um subtipo muito raro que se inicia na infância e mostra envolvimento predominante da pele. Descrevemos o caso clínico de uma paciente de 5 anos que apresentou lesões cutâneas e hipertricose e cujo diagnóstico foi confirmado por aumento de uroporfirinas na urina e sequenciamento do gene UROD.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Porfirias hepáticas]]></kwd>
<kwd lng="es"><![CDATA[Porfiria eritropoyética]]></kwd>
<kwd lng="es"><![CDATA[Hemo]]></kwd>
<kwd lng="es"><![CDATA[Niño]]></kwd>
<kwd lng="en"><![CDATA[Hepatic porphyrias]]></kwd>
<kwd lng="en"><![CDATA[Erythropoietic porphyria]]></kwd>
<kwd lng="en"><![CDATA[Heme]]></kwd>
<kwd lng="en"><![CDATA[Child]]></kwd>
<kwd lng="pt"><![CDATA[Porfirias hepáticas]]></kwd>
<kwd lng="pt"><![CDATA[Porfiria eritropoética]]></kwd>
<kwd lng="pt"><![CDATA[Heme]]></kwd>
<kwd lng="pt"><![CDATA[Criança]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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