<?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>S0872-07542022000100038</article-id>
<article-id pub-id-type="doi">10.25753/birthgrowthmj.v31.i1.26341</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Congenital disorders of glycosylation]]></article-title>
<article-title xml:lang="pt"><![CDATA[Defeitos congénitos da glicosilação]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mendes]]></surname>
<given-names><![CDATA[Ana Raquel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Quelhas]]></surname>
<given-names><![CDATA[Dulce]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Correia]]></surname>
<given-names><![CDATA[Joana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Coelho]]></surname>
<given-names><![CDATA[Margarida Paiva]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bandeira]]></surname>
<given-names><![CDATA[Anabela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martins]]></surname>
<given-names><![CDATA[Esmeralda]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Hospitalar Universitário do Porto Centro Materno-Infantil do Norte Department of Pediatrics]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centro Hospitalar Universitário do Porto Centro de Genética Médica Genetic Biochemistry Unit]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro Hospitalar Universitário do Porto Centro Materno-Infantil do Norte Department of Pediatrics]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>30</day>
<month>03</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>30</day>
<month>03</month>
<year>2022</year>
</pub-date>
<volume>31</volume>
<numero>1</numero>
<fpage>38</fpage>
<lpage>54</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S0872-07542022000100038&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S0872-07542022000100038&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S0872-07542022000100038&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Congenital disorders of glycosylation are a highly variable, rapidly expanding family of genetic diseases that result from defects in the synthesis of glycans. The vast majority of these monogenic diseases are inherited in an autosomal recessive way, but some types follow an autosomal dominant or X-linked inheritance. The present work aimed to review the state of the art of congenital disorders of glycosylation, including available therapeutic options, and present a simplified diagnostic approach to this group of diseases. Congenital disorders of glycosylation can be classified into four categories: N-linked glycosylation defects, O-linked glycosylation defects, combined glycosylation defects, and glycosphingolipid and glycosylphosphatidylinositol anchor synthesis defects. The phenotype may range from mild to severe, depending on disease severity. Clinical features include dysmorphic features, neurologic, dermatologic, cardiac, endocrine, immunologic, hematologic, gastrointestinal and liver involvement, and skeletal muscle abnormalities. As there is no universal or pathognomonic sign or symptom and no sensitive diagnostic test, it is of foremost importance to keep a high index of suspicion of these diseases. When a congenital disorder of glycosylation is suspected, the first step in screening is to perform serum transferrin isoelectric focusing. Molecular genetic testing is the most specific diagnostic test. Treatment is usually symptomatic, with specific treatment only available for some of these disorders.  Since congenital defects of glycosylation may affect any organ at any age and have variable clinical presentation, they should be considered in the differential diagnosis of any patient with multiorgan involvement.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo Os defeitos congénitos da glicosilação são um grupo variável de doenças genéticas em rápida expansão, resultantes de defeitos na síntese de glicanos. A grande maioria destas doenças monogénicas é transmitida de forma autossómica recessiva, mas algumas têm transmissão autossómica dominante ou ligada ao cromossoma X. Neste trabalho, os autores pretenderam rever o atual estado da arte sobre este grupo de doenças, incluindo opções terapêuticas disponíveis e apresentar uma abordagem de diagnóstico simplificada para as mesmas. Os defeitos congénitos da glicosilação podem ser classificados em quatro categorias: defeitos da N-glicosilação, defeitos da O-glicosilação, defeitos combinados da glicosilação, e defeitos na biossíntese dos lípidos e da âncora glicosilfosfatidilinositol. O fenótipo pode variar entre ligeiro a grave, dependendo da gravidade da doença. As manifestações clínicas incluem dismorfias, envolvimento neurológico, dermatológico, cardíaco, endócrino, imunológico, hematológico, gastrointestinal e hepático, e anomalias músculo-esqueléticas. Devido à ausência de sinais ou sintomas universais ou patognomónicos e de biomarcadores, é fundamental manter um elevado índice de suspeição para o diagnóstico deste grupo de doenças. Mediante suspeita clínica, o primeiro passo no rastreio deve ser a focagem isoelétrica da transferrina sérica. O teste genético molecular é o teste de diagnóstico mais específico. O tratamento é geralmente sintomático, só estando disponível tratamento específico para alguns subtipos destas doenças. Como os defeitos congénitos da glicosilação podem atingir qualquer órgão em qualquer idade e ter uma apresentação clínica variável, este grupo de doenças deve fazer parte do diagnóstico diferencial de todos os doentes com envolvimento multiorgânico.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[congenital disorders of glycosylation]]></kwd>
<kwd lng="en"><![CDATA[MPI-CDG]]></kwd>
<kwd lng="en"><![CDATA[multisystemic disease]]></kwd>
<kwd lng="en"><![CDATA[oral mannose]]></kwd>
<kwd lng="en"><![CDATA[PMM2-CDG]]></kwd>
<kwd lng="en"><![CDATA[serum transferrin isoelectric focusing]]></kwd>
<kwd lng="pt"><![CDATA[defeitos congénitos da glicosilação]]></kwd>
<kwd lng="pt"><![CDATA[doença multissistémica]]></kwd>
<kwd lng="pt"><![CDATA[focagem isoelétrica da transferrina sérica]]></kwd>
<kwd lng="pt"><![CDATA[manose oral]]></kwd>
<kwd lng="pt"><![CDATA[MPI-CDG]]></kwd>
<kwd lng="pt"><![CDATA[PMM2-CDG]]></kwd>
</kwd-group>
</article-meta>
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