<?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>S2221-24342023000400425</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Implementación de una metodología para la detección de marcadores bioquímicos en la tirosinemia tipo 1]]></article-title>
<article-title xml:lang="en"><![CDATA[Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fuentes Cortés]]></surname>
<given-names><![CDATA[Iovana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pacheco Suárez]]></surname>
<given-names><![CDATA[Beliany]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Charón Savón]]></surname>
<given-names><![CDATA[Dulce María]]></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[La Habana ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2023</year>
</pub-date>
<volume>13</volume>
<numero>4</numero>
<fpage>425</fpage>
<lpage>434</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S2221-24342023000400425&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S2221-24342023000400425&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S2221-24342023000400425&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Fundamento:  la tirosinemia hereditaria tipo I o tirosinemia hepato-renal es una enfermedad autosómica recesiva causada por la deficiencia de la enzima fumarilacetoacetato hidrolasa. Debido a su complejidad metabólica, su confirmación lleva aparejado, un conjunto de métodos altamente costosos.  Objetivo:  implementar una metodología de trabajo para la detección de metabolitos marcadores de la tirosinemia tipo 1.  Método:  se realizó un estudio descriptivo y transversal en una serie de casos evaluados en el período comprendido entre enero del 2021 a febrero del 2023. Como examen inicial se realizaron las pruebas cualitativas de &#945; nitroso beta naftol y 2,4 dinitrofenilhidracina para la identificación de la tirosina y los &#945; cetoácidos respectivamente. Luego se realizó el método HPLC para la cuantificación de la tirosina y CG-EM para la determinación del perfil cromatográfico en orina como técnicas confirmatorias.  Resultados  las pruebas cualitativas resultaron positivas para la tirosina y sus metabolitos, así como, para los alfa cetoácidos. El perfil de ácidos orgánicos mostró excreción elevada de los metabolitos marcadores de la enfermedad en 8 casos, a los cuales se les fue realizada la cuantificación de la tirosina que resultaron positivos de padecer la enfermedad.  Conclusiones:  la implementación de la metodología resultó ser una herramienta valiosa en el diagnóstico temprano de la enfermedad.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Foundation: hereditary tyrosinemia type I or hepato-renal tyrosinemia is an autosomal recessive disease caused by deficiency of the enzyme fumarylacetoacetate hydrolase. Due to its metabolic complexity, its confirmation requires a set of highly expensive methods.  Objective: to implement a work methodology for the detection of marker metabolites of type 1 tyrosinemia.  Method: a descriptive and cross-sectional study was carried out in a series of cases evaluated in the period from January 2021 to February 2023. As an initial examination, qualitative tests of &#945; nitroso beta naphthol and 2,4 dinitrophenylhydrazine were carried out for the identification of tyrosine and &#945; keto acids respectively. Then, the HPLC method was performed for the quantification of tyrosine and GC-MS for the determination of the chromatographic profile in urine as confirmatory techniques.  Results: qualitative tests were positive for tyrosine and its metabolites, as well as for alpha keto acids. The organic acid profile showed elevated excretion of the disease marker metabolites in 8 cases, in which tyrosine quantification was performed, which were positive for suffering from the disease.  Conclusions: the implementation of the methodology turned out to be a valuable tool in the early diagnosis of the disease.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[marcadores bioquímicos]]></kwd>
<kwd lng="es"><![CDATA[deficiencia de la enzima]]></kwd>
<kwd lng="es"><![CDATA[metodología]]></kwd>
<kwd lng="en"><![CDATA[biochemical markers]]></kwd>
<kwd lng="en"><![CDATA[enzyme deficiency]]></kwd>
<kwd lng="en"><![CDATA[methodology]]></kwd>
</kwd-group>
</article-meta>
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<numero>^s1</numero>
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<person-group person-group-type="author">
<name>
<surname><![CDATA[Artuch]]></surname>
<given-names><![CDATA[R]]></given-names>
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<name>
<surname><![CDATA[Moreno]]></surname>
<given-names><![CDATA[RM]]></given-names>
</name>
<name>
<surname><![CDATA[Puig]]></surname>
<given-names><![CDATA[M]]></given-names>
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<name>
<surname><![CDATA[Montero]]></surname>
<given-names><![CDATA[A.]]></given-names>
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<article-title xml:lang=""><![CDATA[El laboratorio en el diagnóstico de las enfermedades raras.]]></article-title>
<source><![CDATA[Anales Sis San Navarra]]></source>
<year>2008</year>
<volume>31</volume>
<numero>^s2</numero>
<issue>^s2</issue>
<supplement>2</supplement>
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</back>
</article>
