<?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>S0212-16112018000100237</article-id>
<article-id pub-id-type="doi">10.20960/nh.1329</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[3-hydroxy-3-methylglutaryl-CoA lyase deficiency: a case report and literature review]]></article-title>
<article-title xml:lang="es"><![CDATA[Deficiencia de la 3-hidroxi-3-metilglutaril-CoA liasa: un caso clínico y revisión de la literatura]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Yilmaz]]></surname>
<given-names><![CDATA[Ozlem]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Kitchen]]></surname>
<given-names><![CDATA[Steve]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pinto]]></surname>
<given-names><![CDATA[Alex]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Daly]]></surname>
<given-names><![CDATA[Anne]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gerrard]]></surname>
<given-names><![CDATA[Adam]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hoban]]></surname>
<given-names><![CDATA[Rachel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Santra]]></surname>
<given-names><![CDATA[Saikat]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sreekantam]]></surname>
<given-names><![CDATA[Srividya]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Frost]]></surname>
<given-names><![CDATA[Kathryn]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pigott]]></surname>
<given-names><![CDATA[Anna]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[MacDonald]]></surname>
<given-names><![CDATA[Anita]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hacettepe University  ]]></institution>
<addr-line><![CDATA[Ankara ]]></addr-line>
<country>Turkey</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Birmingham Children's Hospital  ]]></institution>
<addr-line><![CDATA[Birmingham ]]></addr-line>
<country>United Kingdom</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Royal Stoke University Hospital  ]]></institution>
<addr-line><![CDATA[Stoke-on-Trent ]]></addr-line>
<country>United Kingdom</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>02</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>02</month>
<year>2018</year>
</pub-date>
<volume>35</volume>
<numero>1</numero>
<fpage>237</fpage>
<lpage>244</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S0212-16112018000100237&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S0212-16112018000100237&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S0212-16112018000100237&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction:  3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is an autosomal recessive disorder that usually presents in the neonatal period with vomiting, metabolic acidosis, hypoglycemia and absent ketonuria. Few cases are reported in the literature, and optimal dietary management and long term outcome are not fully understood.  Case report:  We report a 2 year old girl with HMG-CoA-lyase deficiency who had limited fasting tolerance on a low protein diet, with several recurrent hospital admissions with severe hypoketotic hypoglycaemia and metabolic acidosis. We also review the dietary management and outcome of other reported cases in the literature.  Discussion:  In order to define optimal dietary treatment, it is important to collect higher numbers of case studies with detailed dietary management, fasting times and outcome.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción:  la deficiencia de la 3-hidroxi-3-metilglutaril-CoA (HMG-CoA) liasa es un desorden autosómico recesivo que normalmente se presenta en la infancia con vómitos, acidosis metabólica, hipoglicemia y sin cetonuria. Se han publicado pocos casos en la literatura científica sobre el mejor tratamiento dietético para el adecuado desarrollo de los pacientes a largo plazo, por lo que esta deficiencia no es bien conocida.  Caso clínico:  presentamos una niña de 2 años con deficiencia de la 3-hidroxi-3-metilglutaril-CoA (HMG-CoA) liasa. Recibiendo una dieta baja en proteína con una tolerancia de ayuno limitada con episodios recurrentes de admisión hospitalaria con hipoglicemia hipoketótica y acidosis metabólica. También hemos revisado el tratamiento dietético y el desarrollo de otros casos publicados en la literatura científica.  Discusión:  es importante recoger más casos clínicos describiendo el tratamiento dietético seguido, el tiempo máximo de ayuno y el desarrollo de los pacientes con el objetivo de definir el mejor tratamiento.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[3-hydroxy-3-methylglutaryl-CoA lyase deficiency]]></kwd>
<kwd lng="en"><![CDATA[Leucine]]></kwd>
<kwd lng="en"><![CDATA[Protein]]></kwd>
<kwd lng="en"><![CDATA[Hypoglycemia]]></kwd>
<kwd lng="en"><![CDATA[Metabolic acidosis]]></kwd>
<kwd lng="es"><![CDATA[Deficiencia de la 3-hidroxi-3-metilglutaril-CoA (HMG-CoA) liasa]]></kwd>
<kwd lng="es"><![CDATA[Leucina]]></kwd>
<kwd lng="es"><![CDATA[Proteína]]></kwd>
<kwd lng="es"><![CDATA[Hipoglicemia]]></kwd>
<kwd lng="es"><![CDATA[Acidosis metabólica]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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<article-title xml:lang=""><![CDATA[3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency Postnatal management following prenatal diagnosis by analysis of maternal urine]]></article-title>
<source><![CDATA[J Pediatr]]></source>
<year>1979</year>
<volume>95</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>1004-7</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
