<?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>0872-0754</journal-id>
<journal-title><![CDATA[Nascer e Crescer]]></journal-title>
<abbrev-journal-title><![CDATA[Nascer e Crescer]]></abbrev-journal-title>
<issn>0872-0754</issn>
<publisher>
<publisher-name><![CDATA[Centro Hospitalar do Porto]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0872-07542021000100044</article-id>
<article-id pub-id-type="doi">10.25753/birthgrowthmj.v30.i1.18753</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Suspecting classical homocystinuria in an adolescent born before the newborn screening program]]></article-title>
<article-title xml:lang="pt"><![CDATA[Suspeita de homocistinúria clássica numa adolescente nascida antes do rastreio neonatal precoce]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Carvalho]]></surname>
<given-names><![CDATA[Fábia Ginja de]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Campos]]></surname>
<given-names><![CDATA[Teresa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Reis]]></surname>
<given-names><![CDATA[Joana Soares dos]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Portela]]></surname>
<given-names><![CDATA[Mariana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vasconcelos]]></surname>
<given-names><![CDATA[Carla]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ferreira]]></surname>
<given-names><![CDATA[Carla]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cerqueira]]></surname>
<given-names><![CDATA[Arnaldo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Oliveira]]></surname>
<given-names><![CDATA[Ângela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vilarinho]]></surname>
<given-names><![CDATA[Laura]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Leão-Teles]]></surname>
<given-names><![CDATA[Elisa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rodrigues]]></surname>
<given-names><![CDATA[Esmeralda]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital de Braga Department of Pediatrics ]]></institution>
<addr-line><![CDATA[Braga ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centro Hospitalar Universitário São João. Reference Center for Inherited Metabolic Disorders ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro Hospitalar Vila de Nova Gaia/Espinho Department of Pediatrics, Unidade II ]]></institution>
<addr-line><![CDATA[Vila Nova de Gaia ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital de Braga Pediatric Intermediate Care Unit ]]></institution>
<addr-line><![CDATA[Braga ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,National Institute of Health Dr Ricardo Jorge Neonatal Screening, Metabolism &amp; Genetics Unit, Human Genetics Department ]]></institution>
<addr-line><![CDATA[Lisboa ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2021</year>
</pub-date>
<volume>30</volume>
<numero>1</numero>
<fpage>44</fpage>
<lpage>47</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S0872-07542021000100044&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S0872-07542021000100044&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S0872-07542021000100044&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction: Classical homocystinuria (HCU) is an autosomal recessive disorder caused by a deficiency in the cystathionine beta-synthase enzyme and associated with a high probability of vascular complications. Herein is presented the case of an adolescent diagnosed with HCU during cerebral venous sinus thrombosis (CVST) study.  Case Report: A 14-year-old girl presented with thrombophilia screening tests suggestive of HCU during CVST study. After referral to an Inherited Metabolic Diseases Unit, she started supplementation with pyridoxine, folic acid, vitamin B12, betaine anhydrous, and cysteine and was advised to restrict natural proteins and methionine from diet. Genetic analysis revealed a homozygous CBS mutation (c.572C&gt;T (p.T191M) with c.699C&gt;T (p.Y233Y) polymorphism.  Discussion: In adolescents born before 2004 (year of implementation of the Portuguese newborn screening program), HCU should be considered when studying hypercoagulability syndromes, as it is a treatable condition and treatment can prevent major morbidity and mortality causes.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo  Introdução: A homocistinúria clássica (HCU) é uma doença autossómica recessiva caracterizada por um défice na enzima cistationina beta-sintase, com probabilidade de ocorrência de complicações vasculares associadas. É apresentado o caso de uma adolescente diagnosticada com HCU no decorrer do estudo etiológico de trombose dos seios venosos (TSV).  Descrição do caso: Uma adolescente de 14 anos apresentou um resultado de teste de trombofilia sugestivo de HCU durante o estudo de TSV. A doente foi orientada para uma Unidade de Doenças Hereditárias do Metabolismo, onde iniciou suplementação com piridoxina, ácido fólico, vitamina B12, betaína e cisteína e foi aconselhada a restringir proteínas naturais e metionina na dieta. O estudo genético revelou uma mutação homozigótica do gene CBS (c.572C&gt; T (p.T191M) e o polimorfismo c.699C&gt; T (p.Y233Y).  Discussão:  Os autores salientam a importância de considerar a HCU no estudo etiológico da trombofilia, principalmente em adolescentes nascidos antes de 2004 (ano de inclusão da HCU no rastreio neonatal), uma vez que se trata de uma doença tratável e o tratamento é capaz de prevenir as principais causas de morbimortalidade associadas.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[homocystinuria]]></kwd>
<kwd lng="en"><![CDATA[neonatal screening]]></kwd>
<kwd lng="en"><![CDATA[sinus thrombosis]]></kwd>
<kwd lng="pt"><![CDATA[homocistinúria]]></kwd>
<kwd lng="pt"><![CDATA[rastreio neonatal precoce]]></kwd>
<kwd lng="pt"><![CDATA[trombose dos seios venosos]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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