<?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>2301-1254</journal-id>
<journal-title><![CDATA[Anales de la Facultad de Medicina]]></journal-title>
<abbrev-journal-title><![CDATA[Anfamed]]></abbrev-journal-title>
<issn>2301-1254</issn>
<publisher>
<publisher-name><![CDATA[Universidad de la República. Facultad de Medicina]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2301-12542025000201402</article-id>
<article-id pub-id-type="doi">10.25184/anfamed2025v12n2a4</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Fenilcetonuria clásica con inicio tardío de terapia dietética: reporte de un caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Classic phenylketonuria with delayed initiation of dietary therapy: a case report]]></article-title>
<article-title xml:lang="pt"><![CDATA[Fenilcetonúria clássica com início tardio da terapia dietética: relato de caso]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Balseca Artos]]></surname>
<given-names><![CDATA[Eddy Efren]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Castellano Castellano]]></surname>
<given-names><![CDATA[Fabian Gustavo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Campoverde Loor]]></surname>
<given-names><![CDATA[Carolina Alejandra]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Alcívar Herrera]]></surname>
<given-names><![CDATA[Diana María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro de Salud tipo C Augusto Egas Departamento de Emergencia ]]></institution>
<addr-line><![CDATA[Santo Domingo ]]></addr-line>
<country>Ecuador</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Regional Autónoma De Los Andes Facultad Ciencias De La Salud, Medicina ]]></institution>
<addr-line><![CDATA[Santo Domingo ]]></addr-line>
<country>Ecuador</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro de Salud Tipo A Misahuallí  ]]></institution>
<addr-line><![CDATA[Tena ]]></addr-line>
<country>Ecuador</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Centro de Salud tipo C Augusto Egas Departamento De Psicología Clínica ]]></institution>
<addr-line><![CDATA[Santo Domingo ]]></addr-line>
<country>Ecuador</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2025</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2025</year>
</pub-date>
<volume>12</volume>
<numero>2</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S2301-12542025000201402&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S2301-12542025000201402&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S2301-12542025000201402&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La fenilcetonuria es un error innato del metabolismo, causado por la deficiencia de la enzima fenilalanina hidroxilasa, que puede ocasionar daño neurológico irreversible. Aunque su incidencia varía geográficamente, es una de las patologías más relevantes dentro del tamizaje neonatal.  Presentación del caso:  Lactante de 7 meses con diagnóstico de fenilcetonuria clásica, confirmado a las 8 semanas con niveles elevados de fenilalanina. Debido a retrasos logísticos, continuó con lactancia materna exclusiva, lo que mantuvo la hiperfenilalaninemia. Posteriormente, al iniciar la fórmula metabólica especializada, se evidenció una notable mejoría en los niveles plasmáticos. Su desarrollo psicomotor fue adecuado y permanece en seguimiento multidisciplinario.  Conclusión:  Este caso subraya el valor del tamizaje neonatal para la detección precoz de enfermedades metabólicas prevenibles, como la fenilcetonuria. La intervención dietética oportuna evitó complicaciones neurológicas severas, lo que refuerza la necesidad de consolidar el programa de Tamizaje Metabólico Neonatal y garantizar el seguimiento integral en centros especializados. Además, este reporte aporta evidencia clínica regional relevante y puede servir de referencia para optimizar el manejo de casos similares en contextos con limitada experiencia.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Summary Phenylketonuria is a rare inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase, which can lead to irreversible neurological damage. Although its incidence varies geographically, it remains one of the most significant conditions screened through neonatal testing.  Case presentation:  A 7-month-old infant was diagnosed with classic phenylketonuria, confirmed at 8 weeks of age through elevated phenylalanine levels. Due to logistical delays, the infant continued on exclusive breastfeeding, which sustained hyperphenylalaninaemia. Following the introduction of a specialised metabolic formula, there was a marked improvement in plasma phenylalanine levels. Psychomotor development has remained appropriate, and the child continues under multidisciplinary follow-up.  Conclusion:  This case highlights the importance of neonatal screening for the early detection of preventable metabolic disorders such as phenylketonuria. Timely dietary intervention prevented severe neurological complications, reinforcing the need to strengthen the Neonatal Metabolic Screening Programme and to ensure comprehensive follow-up in specialised centres. Moreover, this report provides relevant regional clinical evidence and may serve as a reference for improving the management of similar cases in settings with limited prior experience.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo A fenilcetonúria é um erro inato do metabolismo, causado pela deficiência da enzima fenilalanina hidroxilase, que pode ocasionar dano neurológico irreversível. Embora sua incidência varie geograficamente, é uma das patologias mais relevantes dentro do teste de triagem neonatal.  Apresentação do caso:  Lactente de 7 meses com diagnóstico de fenilcetonúria clássica, confirmado às 8 semanas de vida por meio de níveis elevados de fenilalanina. Devido a atrasos logísticos, manteve-se em aleitamento materno exclusivo, o que perpetuou a hiperfenilalaninemia. Posteriormente, com a introdução de fórmula metabólica especializada, observou-se melhora significativa nos níveis plasmáticos. Seu desenvolvimento psicomotor foi adequado e permanece sob acompanhamento multidisciplinar.  Conclusão:  Este caso destaca a importância da triagem neonatal para a detecção precoce de doenças metabólicas preveníveis, como a fenilcetonúria. A intervenção dietética oportuna evitou complicações neurológicas graves, reforçando a necessidade de consolidar o programa de Triagem Metabólica Neonatal e assegurar o seguimento integral em centros especializados. Ademais, este relato contribui com evidência clínica regional relevante e pode servir de referência para otimizar o manejo de casos semelhantes em contextos com experiência limitada.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[fenilcetonuria]]></kwd>
<kwd lng="es"><![CDATA[Informe de caso]]></kwd>
<kwd lng="es"><![CDATA[Hiperfenilalaninemia]]></kwd>
<kwd lng="es"><![CDATA[Tamizaje Metabólico]]></kwd>
<kwd lng="es"><![CDATA[Desarrollo Psicomotor]]></kwd>
<kwd lng="en"><![CDATA[Phenylketonuria]]></kwd>
<kwd lng="en"><![CDATA[Case Report]]></kwd>
<kwd lng="en"><![CDATA[Hyperphenylalaninemia]]></kwd>
<kwd lng="en"><![CDATA[Metabolic Screening]]></kwd>
<kwd lng="en"><![CDATA[Psychomotor Development]]></kwd>
<kwd lng="pt"><![CDATA[Fenilcetonúria]]></kwd>
<kwd lng="pt"><![CDATA[Relato de caso]]></kwd>
<kwd lng="pt"><![CDATA[Hiperfenilalaninemia]]></kwd>
<kwd lng="pt"><![CDATA[Triagem Metabólica]]></kwd>
<kwd lng="pt"><![CDATA[Desenvolvimento Psicomotor]]></kwd>
</kwd-group>
</article-meta>
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