<?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>0212-1611</journal-id>
<journal-title><![CDATA[Nutrición Hospitalaria]]></journal-title>
<abbrev-journal-title><![CDATA[Nutr. Hosp.]]></abbrev-journal-title>
<issn>0212-1611</issn>
<publisher>
<publisher-name><![CDATA[Grupo Arán]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0212-16112021000400871</article-id>
<article-id pub-id-type="doi">10.20960/nh.03623</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Late-onset methylmalonic acidemia and homocysteinemia]]></article-title>
<article-title xml:lang="es"><![CDATA[Acidemia metilmalónica y homocisteinemia de inicio tardío]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Brox-Torrecilla]]></surname>
<given-names><![CDATA[Noemi]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Arhip]]></surname>
<given-names><![CDATA[Loredana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Miguélez-González]]></surname>
<given-names><![CDATA[María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Castellano-Gasch]]></surname>
<given-names><![CDATA[Sandra]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Contreras-Chicote]]></surname>
<given-names><![CDATA[Ana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rodríguez-Ferrero]]></surname>
<given-names><![CDATA[María Luisa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Motilla-de la Cámara]]></surname>
<given-names><![CDATA[Marta Luisa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Serrano-Moreno]]></surname>
<given-names><![CDATA[Clara]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cuerda Compes]]></surname>
<given-names><![CDATA[Cristina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto de Investigación Sanitaria Gregorio Marañón Hospital General Universitario Gregorio Marañón ]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>Spain</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,FMC Dialcentro Nephrology Department ]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>Spain</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital General Universitario Gregorio Marañón Neurology Service ]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>Spain</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital General Universitario Gregorio Marañón Nephrology Service ]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>Spain</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2021</year>
</pub-date>
<volume>38</volume>
<numero>4</numero>
<fpage>871</fpage>
<lpage>875</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S0212-16112021000400871&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S0212-16112021000400871&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S0212-16112021000400871&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction: cobalamin C (Cbl C) deficiency is the most common defect in intracellular cobalamin metabolism, associated with methylmalonic acidemia and homocystinuria. Its late clinical presentation is heterogeneous and may lead to a diagnostic delay.  Case report: we report the case of a 45-year-old man with a 20-year history of chronic kidney disease and recently diagnosed spastic paraparesis, both of unknown origin. Metabolic studies revealed elevated levels of homocysteine and methylmalonic acid in the blood and urine. A genetic study confirmed cobalamin C deficiency. Treatment with hydroxocobalamin, betaine, carnitine, and folic acid was started. The patient eventually received a kidney transplant.  Discussion: early diagnosis and appropriate treatment improve the clinical evolution of patients with Cbl C deficiency. Determination of homocysteine, organic acids, and other amino acids should be included in the differential diagnosis of patients with nephrological-neurological symptoms without a clear etiology.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: la deficiencia de cobalamina C (Cbl C) es el defecto más común en el metabolismo intracelular de la cobalamina, asociado a acidemia metilmalónica y homocistinuria. Su presentación clínica tardía es heterogénea y puede llevar a un retraso en el diagnóstico.  Caso clínico: presentamos el caso de un varón de 45 años con 20 años de evolución de enfermedad renal crónica y paraparesia espástica de reciente diagnóstico, ambos de origen desconocido. Los estudios metabólicos revelaron niveles elevados de homocisteína y ácido metilmalónico en sangre y orina. El estudio genético confirmó el déficit de cobalamina C. Se inició tratamiento con hidroxocobalamina, betaína, carnitina y ácido fólico. El paciente pudo recibir un trasplante renal.  Discusión: el establecimiento de un diagnóstico precoz y un tratamiento adecuado mejora la evolución clínica de los pacientes con déficit de Cbl C. La determinación de homocisteína, ácidos orgánicos y otros aminoácidos debe incluirse en el diagnóstico diferencial de los pacientes con síntomas nefrológico-neurológicos sin una etiología clara.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Cobalamin C]]></kwd>
<kwd lng="en"><![CDATA[Methylmalonic acidemia]]></kwd>
<kwd lng="en"><![CDATA[Hyperhomocysteinemia]]></kwd>
<kwd lng="es"><![CDATA[Cobalamina C]]></kwd>
<kwd lng="es"><![CDATA[Acidemia metilmalónica]]></kwd>
<kwd lng="es"><![CDATA[Hiperhomocisteinemia]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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