<?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>1139-7632</journal-id>
<journal-title><![CDATA[Pediatría Atención Primaria]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Pediatr Aten Primaria]]></abbrev-journal-title>
<issn>1139-7632</issn>
<publisher>
<publisher-name><![CDATA[Asociación Española de Pediatría de Atención Primaria]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1139-76322021000100016</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Hepatomegalia, polifagia e hipertransaminasemia]]></article-title>
<article-title xml:lang="en"><![CDATA[Large liver, polyphagia and hipertransaminasemia]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Aymerich de Franchesci]]></surname>
<given-names><![CDATA[Clara Mª]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Riego Martínez]]></surname>
<given-names><![CDATA[Andrea]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Murillo Hernández]]></surname>
<given-names><![CDATA[Marta]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Chumillas Calzada]]></surname>
<given-names><![CDATA[Silvia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Coca Robinot]]></surname>
<given-names><![CDATA[David]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Álvarez Mora]]></surname>
<given-names><![CDATA[Mª Isabel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Carabaño Aguado]]></surname>
<given-names><![CDATA[Iván]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Medina Benítez]]></surname>
<given-names><![CDATA[Enrique]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Universitario 12 de Octubre Sección de Gastroenterología, Hepatología y Nutrición Pediátrica ]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Universitario 12 de Octubre  ]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital Universitario 12 de Octubre Servicio de Pediatría Unidad de Enfermedades Raras]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital Universitario 12 de Octubre Servicio de Radiodiagnóstico Sección de Radiología Infantil]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Hospital Universitario 12 de Octubre Servicio de Genética ]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Hospital Universitario 12 de Octubre Servicio de Pediatría Sección de Gastroenterología, Hepatología y Nutrición Pediátrica]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>España</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2021</year>
</pub-date>
<volume>23</volume>
<numero>89</numero>
<fpage>95</fpage>
<lpage>97</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S1139-76322021000100016&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S1139-76322021000100016&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S1139-76322021000100016&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La glucogenosis es una enfermedad metabólica poco frecuente, producida por un trastorno del metabolismo de los hidratos de carbono. Existen múltiples variantes en función de la enzima implicada, la tipo 9 se produce por una deficiencia de la glucógeno desfoforilasa-cinasa a nivel hepático y se caracteriza por la presencia de hepatomegalia, hipertransaminasemia e hipoglucemia con el ayuno. Se presenta el caso de una lactante de 10 meses, cuyos síntomas guías fueron la distensión abdominal y la hiperfagia. El diagnóstico de glucogenosis se confirmó mediante el estudio genético, objetivándose una mutación en el gen PHKG2, compatible con el diagnóstico de enfermedad de almacenamiento de glucógeno tipo 9C. Se instauró tratamiento sintomático, evitando el ayuno y aumentando la ingesta hidratos de carbono de absorción lenta, con buena evolución clínica.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Glycogenesis is a rare metabolic disease caused by a carbohydrate metabolism disorder. There are multiple variants depending on the enzyme involved. Type 9 is produced by a deficiency of glycogen defoforilase-kinase in the liver and is characterized by the presence of hepatomegaly, hypertransaminasemia and hypoglycemia during fasting. We describe the case of a 10-month-old girl whose guiding symptoms were abdominal distention and hyperphagia. The diagnosis of glycogenosis was confirmed by genetic study, observing a mutation in the PHKG2 gene, compatible with the diagnosis of type 9C glycogen storage disease. Symptomatic treatment was established, avoiding fasting and increasing the intake of slowly absorbing carbohydrates, with good clinical evolution.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Glucogenosis]]></kwd>
<kwd lng="es"><![CDATA[Hepatomegalia]]></kwd>
<kwd lng="es"><![CDATA[Hiperfagia]]></kwd>
<kwd lng="es"><![CDATA[Hipertransaminasemia]]></kwd>
<kwd lng="es"><![CDATA[Hipoglucemia]]></kwd>
<kwd lng="en"><![CDATA[Glycogenosis]]></kwd>
<kwd lng="en"><![CDATA[Hepatomegaly]]></kwd>
<kwd lng="en"><![CDATA[Hyperphagia]]></kwd>
<kwd lng="en"><![CDATA[Hypertransaminasemia]]></kwd>
<kwd lng="en"><![CDATA[Hypoglycemia]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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