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Entry
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- #615026 - RIBOFLAVIN DEFICIENCY; RBFVD
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- OMIM
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<p>
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<span class="h4">#615026</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/615026"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=RIBOFLAVIN DEFICIENCY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23032&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK299312/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=615026[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=411712" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 411712<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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615026
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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RIBOFLAVIN DEFICIENCY; RBFVD
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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RIBOFLAVIN TRANSPORTER DEFICIENCY, TYPE 1; RTD1
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<tr class="active">
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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<a href="/geneMap/17/101?start=-3&limit=10&highlight=101">
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17p13.2
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</a>
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<span class="mim-font">
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Riboflavin deficiency
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<td>
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<span class="mim-font">
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<a href="/entry/615026"> 615026 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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SLC52A1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607883"> 607883 </a>
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</span>
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</td>
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</tbody>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/615026" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/615026" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/615026" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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<strong> LABORATORY ABNORMALITIES </strong>
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- Increased plasma acylcarnitine levels (if untreated) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314531&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314531</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- One family has been reported (last curated January 2013)<br /> -
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Mutation carrier is clinically asymptomatic<br /> -
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Offspring of mutation carrier may show clinical signs of secondary riboflavin deficiency in the neonatal period<br /> -
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Riboflavin supplementation normalizes any clinical or biochemical changes<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the solute carrier family 52 (riboflavin transporter), member 1, gene (SLC52A1, <a href="/entry/607883#0001">607883.0001</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because riboflavin deficiency (RBFVD) is caused by heterozygous mutation in the SLC52A1 gene (<a href="/entry/607883">607883</a>) on chromosome 17p13.</p>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Chiong, M. A., Sim, K. G., Carpenter, K., Rhead, W., Ho, G., Olsen, R. K. J., Christodoulou, J. <strong>Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.</strong> Molec. Genet. Metab. 92: 109-114, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17689999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17689999</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.06.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17689999">Chiong et al. (2007)</a> reported a newborn who presented soon after birth with poor suck, hypoglycemia, and metabolic acidosis. She had dicarboxylic aciduria and elevated plasma acylcarnitine levels, initially thought to be consistent with multiple acyl-CoA dehydrogenase deficiency (MADD; <a href="/entry/231680">231680</a>). Treatment with oral riboflavin resulted in complete resolution of the clinical and biochemical findings. Because of this rapid and compete response, maternal riboflavin deficiency was postulated and confirmed by serum testing. The mother reported severe vomiting and a restricted diet during pregnancy, but had no other signs or symptoms of riboflavin deficiency. While on a normal diet, the mother showed increased serum acylcarnitine levels, which normalized after riboflavin supplementation, suggesting that she had a primary deficiency in riboflavin metabolism. Riboflavin supplementation in the child was stopped at age 15 months, and she showed normal development. Primary MADD deficiency in the child was excluded by genetic analysis. The findings were consistent with transient neonatal riboflavin deficiency secondary to maternal riboflavin deficiency that was exacerbated during pregnancy. <a href="#2" class="mim-tip-reference" title="Ho, G., Yonezawa, A., Masuda, S., Inui, K., Sim, K. G., Carpenter, K., Olsen, R. K. J., Mitchell, J. J., Rhead, W. J., Peters, G., Christodoulou, J. <strong>Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.</strong> Hum. Mutat. 32: E1976-E1984, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21089064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21089064</a>] [<a href="https://doi.org/10.1002/humu.21399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21089064">Ho et al. (2011)</a> reported follow-up of the family reported by <a href="#1" class="mim-tip-reference" title="Chiong, M. A., Sim, K. G., Carpenter, K., Rhead, W., Ho, G., Olsen, R. K. J., Christodoulou, J. <strong>Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.</strong> Molec. Genet. Metab. 92: 109-114, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17689999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17689999</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.06.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17689999">Chiong et al. (2007)</a> and noted that the mother had a second unaffected child while taking oral riboflavin supplementation during pregnancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17689999+21089064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Mosegaard, S., Bruun, G. H,, Flyvbjerg, K. F., Bliksrud, Y. T., Gregersen, N., Dembic, M., Annexstad, E., Tangeraas, T., Olsen, R. K. J., Andresen, B. S. <strong>An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.</strong> Molec. Genet. Metab. 122: 182-188, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29122468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29122468</a>] [<a href="https://doi.org/10.1016/j.ymgme.2017.10.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29122468">Mosegaard et al. (2017)</a> reported a female infant, conceived by in vitro fertility treatment with an anonymous sperm donor, with transient neonatal riboflavin deficiency. The patient's mother had experienced hyperemesis gravidarum and lost 20 kg during the pregnancy, but had no apparent signs or symptoms of riboflavin deficiency (sore mucous membranes, photophobia, or dermatitis). The infant presented at 4 days of age with lethargy, hypotonia, poor peripheral circulation, hypothermia, and metabolic lactic acidosis. Her acylcarnitine profile suggested a diagnosis of MADD. Following treatment with hemofiltration and riboflavin, repeat newborn screening analysis at 8 and 10 days of age showed acylcarnitines in the reference range and a nearly normal level of plasma acylcarnitines. Riboflavin levels in the mother's whole blood were at the lower limit of normal. Riboflavin levels could not be measured in the infant due to the transfusion. Riboflavin treatment was continued for 30 months, and carnitine substitution for 12 months. The child showed normal psychomotor development at age 3 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29122468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In a woman with riboflavin deficiency who had an infant with transient neonatal riboflavin deficiency (<a href="#1" class="mim-tip-reference" title="Chiong, M. A., Sim, K. G., Carpenter, K., Rhead, W., Ho, G., Olsen, R. K. J., Christodoulou, J. <strong>Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.</strong> Molec. Genet. Metab. 92: 109-114, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17689999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17689999</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.06.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17689999">Chiong et al., 2007</a>), <a href="#2" class="mim-tip-reference" title="Ho, G., Yonezawa, A., Masuda, S., Inui, K., Sim, K. G., Carpenter, K., Olsen, R. K. J., Mitchell, J. J., Rhead, W. J., Peters, G., Christodoulou, J. <strong>Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.</strong> Hum. Mutat. 32: E1976-E1984, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21089064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21089064</a>] [<a href="https://doi.org/10.1002/humu.21399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21089064">Ho et al. (2011)</a> identified a de novo heterozygous 1.9-kb deletion in the SLC52A1 gene (<a href="/entry/607883#0001">607883.0001</a>), predicted to result in haploinsufficiency. The infant did not carry the deletion. These findings confirmed that the transient clinical and metabolic abnormalities in the infant were the result of maternal riboflavin deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17689999+21089064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an infant with neonatal riboflavin deficiency, <a href="#3" class="mim-tip-reference" title="Mosegaard, S., Bruun, G. H,, Flyvbjerg, K. F., Bliksrud, Y. T., Gregersen, N., Dembic, M., Annexstad, E., Tangeraas, T., Olsen, R. K. J., Andresen, B. S. <strong>An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.</strong> Molec. Genet. Metab. 122: 182-188, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29122468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29122468</a>] [<a href="https://doi.org/10.1016/j.ymgme.2017.10.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29122468">Mosegaard et al. (2017)</a> identified heterozygosity for an intronic mutation in the SLC52A1 gene (<a href="/entry/607883#0002">607883.0002</a>). The patient's unaffected mother was also heterozygous for the mutation. The father was not available for study. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29122468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Chiong2007" class="mim-anchor"></a>
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Chiong, M. A., Sim, K. G., Carpenter, K., Rhead, W., Ho, G., Olsen, R. K. J., Christodoulou, J.
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<strong>Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.</strong>
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Molec. Genet. Metab. 92: 109-114, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17689999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17689999</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17689999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2007.06.017" target="_blank">Full Text</a>]
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Ho, G., Yonezawa, A., Masuda, S., Inui, K., Sim, K. G., Carpenter, K., Olsen, R. K. J., Mitchell, J. J., Rhead, W. J., Peters, G., Christodoulou, J.
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<strong>Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.</strong>
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Hum. Mutat. 32: E1976-E1984, 2011. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21089064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21089064</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21089064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.21399" target="_blank">Full Text</a>]
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Mosegaard, S., Bruun, G. H,, Flyvbjerg, K. F., Bliksrud, Y. T., Gregersen, N., Dembic, M., Annexstad, E., Tangeraas, T., Olsen, R. K. J., Andresen, B. S.
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<strong>An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.</strong>
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Molec. Genet. Metab. 122: 182-188, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29122468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29122468</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29122468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2017.10.014" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Ada Hamosh - updated : 01/30/2018
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<span class="mim-text-font">
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Cassandra L. Kniffin : 1/17/2013
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carol : 03/02/2023
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carol : 01/31/2018<br>carol : 01/30/2018<br>carol : 01/30/2013<br>ckniffin : 1/22/2013
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<strong>#</strong> 615026
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RIBOFLAVIN DEFICIENCY; RBFVD
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<em>Alternative titles; symbols</em>
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RIBOFLAVIN TRANSPORTER DEFICIENCY, TYPE 1; RTD1
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<strong>ORPHA:</strong> 411712;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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17p13.2
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Riboflavin deficiency
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<span class="mim-font">
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615026
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<span class="mim-font">
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Autosomal dominant
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<td>
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<span class="mim-font">
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3
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SLC52A1
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<span class="mim-font">
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607883
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because riboflavin deficiency (RBFVD) is caused by heterozygous mutation in the SLC52A1 gene (607883) on chromosome 17p13.</p>
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<strong>Clinical Features</strong>
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<p>Chiong et al. (2007) reported a newborn who presented soon after birth with poor suck, hypoglycemia, and metabolic acidosis. She had dicarboxylic aciduria and elevated plasma acylcarnitine levels, initially thought to be consistent with multiple acyl-CoA dehydrogenase deficiency (MADD; 231680). Treatment with oral riboflavin resulted in complete resolution of the clinical and biochemical findings. Because of this rapid and compete response, maternal riboflavin deficiency was postulated and confirmed by serum testing. The mother reported severe vomiting and a restricted diet during pregnancy, but had no other signs or symptoms of riboflavin deficiency. While on a normal diet, the mother showed increased serum acylcarnitine levels, which normalized after riboflavin supplementation, suggesting that she had a primary deficiency in riboflavin metabolism. Riboflavin supplementation in the child was stopped at age 15 months, and she showed normal development. Primary MADD deficiency in the child was excluded by genetic analysis. The findings were consistent with transient neonatal riboflavin deficiency secondary to maternal riboflavin deficiency that was exacerbated during pregnancy. Ho et al. (2011) reported follow-up of the family reported by Chiong et al. (2007) and noted that the mother had a second unaffected child while taking oral riboflavin supplementation during pregnancy. </p><p>Mosegaard et al. (2017) reported a female infant, conceived by in vitro fertility treatment with an anonymous sperm donor, with transient neonatal riboflavin deficiency. The patient's mother had experienced hyperemesis gravidarum and lost 20 kg during the pregnancy, but had no apparent signs or symptoms of riboflavin deficiency (sore mucous membranes, photophobia, or dermatitis). The infant presented at 4 days of age with lethargy, hypotonia, poor peripheral circulation, hypothermia, and metabolic lactic acidosis. Her acylcarnitine profile suggested a diagnosis of MADD. Following treatment with hemofiltration and riboflavin, repeat newborn screening analysis at 8 and 10 days of age showed acylcarnitines in the reference range and a nearly normal level of plasma acylcarnitines. Riboflavin levels in the mother's whole blood were at the lower limit of normal. Riboflavin levels could not be measured in the infant due to the transfusion. Riboflavin treatment was continued for 30 months, and carnitine substitution for 12 months. The child showed normal psychomotor development at age 3 years. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In a woman with riboflavin deficiency who had an infant with transient neonatal riboflavin deficiency (Chiong et al., 2007), Ho et al. (2011) identified a de novo heterozygous 1.9-kb deletion in the SLC52A1 gene (607883.0001), predicted to result in haploinsufficiency. The infant did not carry the deletion. These findings confirmed that the transient clinical and metabolic abnormalities in the infant were the result of maternal riboflavin deficiency. </p><p>In an infant with neonatal riboflavin deficiency, Mosegaard et al. (2017) identified heterozygosity for an intronic mutation in the SLC52A1 gene (607883.0002). The patient's unaffected mother was also heterozygous for the mutation. The father was not available for study. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Chiong, M. A., Sim, K. G., Carpenter, K., Rhead, W., Ho, G., Olsen, R. K. J., Christodoulou, J.
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<strong>Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.</strong>
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Molec. Genet. Metab. 92: 109-114, 2007.
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[PubMed: 17689999]
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[Full Text: https://doi.org/10.1016/j.ymgme.2007.06.017]
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</li>
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<li>
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<p class="mim-text-font">
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Ho, G., Yonezawa, A., Masuda, S., Inui, K., Sim, K. G., Carpenter, K., Olsen, R. K. J., Mitchell, J. J., Rhead, W. J., Peters, G., Christodoulou, J.
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<strong>Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.</strong>
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Hum. Mutat. 32: E1976-E1984, 2011. Note: Electronic Article.
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[PubMed: 21089064]
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[Full Text: https://doi.org/10.1002/humu.21399]
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</li>
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<li>
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<p class="mim-text-font">
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Mosegaard, S., Bruun, G. H,, Flyvbjerg, K. F., Bliksrud, Y. T., Gregersen, N., Dembic, M., Annexstad, E., Tangeraas, T., Olsen, R. K. J., Andresen, B. S.
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<strong>An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.</strong>
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Molec. Genet. Metab. 122: 182-188, 2017.
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[PubMed: 29122468]
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[Full Text: https://doi.org/10.1016/j.ymgme.2017.10.014]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 01/30/2018
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 1/17/2013
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<span class="mim-text-font">
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carol : 03/02/2023<br>carol : 01/31/2018<br>carol : 01/30/2018<br>carol : 01/30/2013<br>ckniffin : 1/22/2013
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