<?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>1683-9803</journal-id>
<journal-title><![CDATA[Pediatría (Asunción)]]></journal-title>
<abbrev-journal-title><![CDATA[Pediatr. (Asunción)]]></abbrev-journal-title>
<issn>1683-9803</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Paraguaya de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1683-98032026000100105</article-id>
<article-id pub-id-type="doi">10.31698/ped.53012026014</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Diagnóstico tardío de glucogenosis tipo IXc en un niño procedente de población vulnerable rural. Reporte de caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Late diagnosis of glycogen storage disease type IXc in a child from a vulnerable rural population. A case report]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ledesma-Porras]]></surname>
<given-names><![CDATA[Yesenia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Torres-Salinas]]></surname>
<given-names><![CDATA[Carlos]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Altez-Damas]]></surname>
<given-names><![CDATA[Angel Beckham]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Molina-Mendoza]]></surname>
<given-names><![CDATA[Dafne Gisel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Montes-Híjar]]></surname>
<given-names><![CDATA[Efraín Pablo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Romero-Ledesma]]></surname>
<given-names><![CDATA[Ana Clara]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Continental Facultad de Medicina Humana ]]></institution>
<addr-line><![CDATA[Huancayo ]]></addr-line>
<country>Perú</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Nacional Ramiro Prialé EsSalud  ]]></institution>
<addr-line><![CDATA[Huancayo ]]></addr-line>
<country>Perú</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Sociedad Científica de Estudiantes de Medicina  ]]></institution>
<addr-line><![CDATA[Huancayo ]]></addr-line>
<country>Perú</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>04</month>
<year>2026</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>04</month>
<year>2026</year>
</pub-date>
<volume>53</volume>
<numero>1</numero>
<fpage>105</fpage>
<lpage>110</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_arttext&amp;pid=S1683-98032026000100105&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_abstract&amp;pid=S1683-98032026000100105&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_pdf&amp;pid=S1683-98032026000100105&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN La glucogenosis tipo IXc es una enfermedad metabólica autosómica recesiva causada por una variante en el gen PHKG2. Se presenta durante la infancia con hepatomegalia, hipoglucemia en ayuno y retraso del crecimiento. Su diagnóstico precoz es esencial para evitar complicaciones y procedimientos invasivos innecesarios. Se describe el caso de un paciente masculino de 7 años, procedente de una zona rural del Perú, con hepatoesplenomegalia desde los primeros meses de vida, fue inicialmente mal diagnosticado con neoplasia hepática. Tras varios años sin diagnóstico definitivo, se realizó un panel genético que confirmó glucogenosis tipo IXc, permitiendo el inicio de tratamiento específico con almidón de maíz crudo de Zea mays, conocido en la localidad como maicena cruda. Este caso destaca la necesidad urgente de fortalecer las capacidades diagnósticas en regiones periféricas para enfermedades raras, evitando diagnósticos erróneos y reduciendo la inequidad en salud.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Glycogen storage disease type IXc is an autosomal recessive metabolic disorder caused by a variant in the PHKG2 gene. It presents during childhood with hepatomegaly, fasting hypoglycemia, and growth retardation. Early diagnosis is essential to avoid complications and unnecessary invasive procedures. We describe the case of a 7-year-old male patient from a rural area of &#8203;&#8203;Peru who presented with hepatosplenomegaly from the first months of life. He was initially misdiagnosed with liver neoplasia. After several years without a definitive diagnosis, a genetic panel confirmed glycogen storage disease type IXc, allowing for the initiation of specific treatment with raw corn starch from Zea mays, known locally as maizena cruda. This case highlights the urgent need to strengthen diagnostic capabilities in peripheral regions for rare diseases, preventing misdiagnoses and reducing health inequities.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Enfermedad del almacenamiento de glucógeno]]></kwd>
<kwd lng="es"><![CDATA[niño]]></kwd>
<kwd lng="es"><![CDATA[poblaciones vulnerables]]></kwd>
<kwd lng="es"><![CDATA[hipoglucemia]]></kwd>
<kwd lng="es"><![CDATA[hepatomegalia]]></kwd>
<kwd lng="en"><![CDATA[Glycogen storage disease]]></kwd>
<kwd lng="en"><![CDATA[child]]></kwd>
<kwd lng="en"><![CDATA[vulnerable populations]]></kwd>
<kwd lng="en"><![CDATA[hypoglycemia]]></kwd>
<kwd lng="en"><![CDATA[hepatomegaly]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Shao]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Jiang]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Yan]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Deng]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Very rare case report of glycogen storage disease type IXc with novel PHKG2 variants]]></article-title>
<source><![CDATA[BMC Pediatr]]></source>
<year>2022</year>
<volume>22</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>267</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Geramizadeh]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Ezgu]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Beyzaei]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Glycogen storage disease type IX mutation spectrum and ethnic distribution]]></article-title>
<source><![CDATA[Orphanet J Rare Dis]]></source>
<year>2024</year>
<volume>19</volume>
<page-range>475</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Inci]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Kiliç Yildirim]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Cengiz Ergin]]></surname>
<given-names><![CDATA[FB]]></given-names>
</name>
<name>
<surname><![CDATA[Sari]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Egritas Gürkan]]></surname>
<given-names><![CDATA[Ö]]></given-names>
</name>
<name>
<surname><![CDATA[Okur]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Expected or unexpected clinical findings in liver GSD IX distinct clinical and molecular variability]]></article-title>
<source><![CDATA[J Pediatr Endocrinol Metab]]></source>
<year>2022</year>
<volume>35</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>499-507</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Candela]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Montanari]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Zanaroli]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Baronio]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Ortolano]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Biasucci]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Understanding glycogen storage disease type IX a systematic review with clinical focus]]></article-title>
<source><![CDATA[Genes (Basel)]]></source>
<year>2025</year>
<volume>16</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>584</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Massese]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Tagliaferri]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Dionisi-Vici]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Maiorana]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI]]></article-title>
<source><![CDATA[Orphanet J Rare Dis]]></source>
<year>2022</year>
<volume>17</volume>
<numero>1</numero>
<issue>1</issue>
</nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ferreira]]></surname>
<given-names><![CDATA[CR]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The burden of rare diseases]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2019</year>
<volume>179</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>885-92</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="book">
<collab>Distrito.pe</collab>
<source><![CDATA[Puños en el departamento de Huánuco - municipio y municipalidad de Perú]]></source>
<year></year>
<publisher-name><![CDATA[Distrito.pe]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Butrón Riveros]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Rice]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Toscano]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Campos Esteban]]></surname>
<given-names><![CDATA[MP]]></given-names>
</name>
<name>
<surname><![CDATA[Duran]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Eijkemans]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Equity throughout the life course and the evolving role of the Pan American Health Organization]]></article-title>
<source><![CDATA[Rev Panam Salud Publica]]></source>
<year>2023</year>
<volume>47</volume>
</nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Castillo]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Venturelli]]></surname>
<given-names><![CDATA[MG]]></given-names>
</name>
<name>
<surname><![CDATA[Paz]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Sumire]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Glucogenosis hepática a propósito de un caso]]></article-title>
<source><![CDATA[Rev Gastroenterol Peru]]></source>
<year>2020</year>
<volume>40</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>73-6</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rodríguez Auad]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
<name>
<surname><![CDATA[Villalobos]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Luna]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Tamayo]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Glucogenosis: caracterización clínica-patológica del primer caso descrito en Bolivia en un paciente pediátrico]]></article-title>
<source><![CDATA[Rev Med La Paz]]></source>
<year>2015</year>
<volume>21</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>40-5</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<collab>Moura de Souza CF.de Oliveira BM.Schwartz IVD.Terry Derks</collab>
<article-title xml:lang=""><![CDATA[Website www emergencyprotocol.net to support prevention of metabolic emergencies in patients with hepatic glycogen storage diseases and fatty acid oxidation disorders]]></article-title>
<source><![CDATA[J Inborn Errors Metab Screen]]></source>
<year>2021</year>
<volume>9</volume>
</nlm-citation>
</ref>
</ref-list>
</back>
</article>
