<?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>2221-2434</journal-id>
<journal-title><![CDATA[Revista Finlay]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. Finlay]]></abbrev-journal-title>
<issn>2221-2434</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Ciencias Médicas de Cienfuegos. Centro Provincial de información de Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2221-24342020000100041</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Diagnóstico de aciduria metilmalónica en el periodo 2013-2018]]></article-title>
<article-title xml:lang="en"><![CDATA[Diagnosis of Methyl Malonicaciduria from 2013 to 2018]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Álvarez,]]></surname>
<given-names><![CDATA[Alina Concepción]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Viera,]]></surname>
<given-names><![CDATA[Ivette Camayd]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ojeda,]]></surname>
<given-names><![CDATA[Norma Elena de León]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García,]]></surname>
<given-names><![CDATA[Alina García]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rey,]]></surname>
<given-names><![CDATA[Laritza Martínez]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hernández.]]></surname>
<given-names><![CDATA[Daniel Quintana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Nacional de Genética Médica  ]]></institution>
<addr-line><![CDATA[Habana ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Pediátrico William Soler  ]]></institution>
<addr-line><![CDATA[Habana ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro Provincial de Genética Médica  ]]></institution>
<addr-line><![CDATA[Mayabeque ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2020</year>
</pub-date>
<volume>10</volume>
<numero>1</numero>
<fpage>41</fpage>
<lpage>45</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S2221-24342020000100041&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S2221-24342020000100041&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S2221-24342020000100041&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Fundamento: la aciduria metilmalónica es una de las acidurias orgánicas más frecuentes y agrupa un conjunto de defectos genéticos caracterizados por la excreción de niveles elevados de ácido metilmalónico en la orina. La excreción de este metabolito puede ir acompañada o no de niveles elevados de homocisteína en dependencia de la ruta metabólica afectada.  Objetivo describir la implementación de una metodología de laboratorio que combina el ácido metilmalónico y la homocisteína en el diagnóstico diferencial y seguimiento de la aciduria metilmalónica en el periodo de 2013 a 2018.  Métodos: a los pacientes con incremento de ácido metilmalónico en el perfil de ácidos orgánicos, se les cuantificó homocisteína en plasma y orina. La identificación del ácido metilmalónico se realizó por cromatografía gaseosa/ espectrometría de masas, mientras que la cuantificación de homocisteína por cromatografía líquida de alta resolución.  Resultados: los métodos cromatográficos permitieron la identificación y cuantificación del ácido metilmalónico y la homocisteína, respectivamente. La homocisteína se cuantificó en siete pacientes con niveles incrementados de aciduria metilmalónica. Los niveles de homocisteína en cuatro de ellos fueron superiores a los valores normales, sugiriendo una aciduria combinada con homocistinuria. Tres de los pacientes con aciduria metilmalónica combinada bajo tratamiento mostraron una disminución en los niveles de ambos metabolitos, correspondiendo con una satisfactoria evolución.  Conclusiones: la metodología implementada con los análisis de la determinación simultánea de ambos marcadores permitió el diagnóstico diferencial y seguimiento bioquímico de la aciduria metilmalónica.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Foundation: methylmalonic aciduria is one of the most frequent organic acidurias and groups together a set of genetic defects, characterized by the excretion of elevated levels of urinemethyl malonic acid. The excretion of this metabolite may or may not be accompanied by elevated homocysteine &#8203;&#8203;levels depending on the affected metabolic pathway.  Objective:  to describe the implementation of a laboratory methodology that combines methylmalonic acid and homocysteine &#8203;&#8203;in the differential diagnosis and monitoring of methylmalonic aciduria in the period from 2013 to 2018.  Methods:  for patients with an increase in methylmalonic acid in the organic acid profile, homocysteine &#8203;&#8203;was quantified in plasma and urine. The identification of methylmalonic acid was performed by gas chromatography / mass spectrometry, while the homocysteine &#8203;&#8203;quantification by high performance liquid chromatography.  Results: chromatographic methods allowed the identification and quantification of methylmalonic acid and homocysteine, respectively. Homocysteine &#8203;&#8203;was quantified in seven patients with increased levels of methylmalonic aciduria. Homocysteine &#8203;&#8203;levels in four of them were higher than normal values, suggesting aciduria combined with homocystinuria. Three of the patients with combined methylmalonic aciduria under treatment showed a decrease in the levels of both metabolites, corresponding to a satisfactory evolution.  Conclusions:  simultaneous determination of both markers allowed differential diagnosis and biochemical monitoring of this disease.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[diagnóstico]]></kwd>
<kwd lng="es"><![CDATA[ácido metilmalónico]]></kwd>
<kwd lng="es"><![CDATA[enfermedades genéticas congénitas]]></kwd>
<kwd lng="en"><![CDATA[diagnosis]]></kwd>
<kwd lng="en"><![CDATA[methylmalonic acid]]></kwd>
<kwd lng="en"><![CDATA[genetic diseases inborn]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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