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Entry
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- #229050 - FOLATE MALABSORPTION, HEREDITARY
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- OMIM
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<p>
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<span class="h4">#229050</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/229050"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</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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<div><a href="https://clinicaltrials.gov/search?cond=FOLATE MALABSORPTION, HEREDITARY" 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=11940&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/NBK1673/" 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.diseaseinfosearch.org/x/8050" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/hereditary-folate-malabsorption" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=229050[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=90045" 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 class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111678" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/229050" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111678" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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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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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 62578003<br />
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<strong>ORPHA:</strong> 90045<br />
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<strong>DO:</strong> 0111678<br />
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">ICD+</a>
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<div>
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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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229050
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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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FOLATE MALABSORPTION, HEREDITARY
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</span>
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</h3>
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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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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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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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</th>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/17/337?start=-3&limit=10&highlight=337">
|
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17q11.2
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</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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Folate malabsorption, hereditary
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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/229050"> 229050 </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 recessive">AR</abbr>
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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="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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SLC46A1
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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/611672"> 611672 </a>
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</span>
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</td>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/229050" 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="sr-only">Toggle Dropdown</span>
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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/229050" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/229050" 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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<div>
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<p />
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</div>
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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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<div>
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<div>
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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 recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> GROWTH </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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<div>
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<span class="h5 mim-font">
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<em> Other </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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|
|
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> HEAD & NECK </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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<div>
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<span class="h5 mim-font">
|
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<em> Mouth </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
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- Oral ulcers <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26284000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26284000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149745</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000155</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> ABDOMEN </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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<div>
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<span class="h5 mim-font">
|
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<em> Gastrointestinal </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Poor feeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299698007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299698007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0576456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576456</a>, <a href="https://bioportal.bioontology.org/search?q=C0232466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span><br /> -
|
|
Diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br /> -
|
|
Folate malabsorption <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749650</a>]</span><br />
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|
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</span>
|
|
</div>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
|
|
Head lag <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/390789009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">390789009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1141883&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1141883</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032988" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032988</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032988" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032988</a>]</span><br /> -
|
|
Delayed development if untreated <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749649&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749649</a>]</span><br /> -
|
|
Mental retardation if untreated <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856609&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856609</a>]</span><br /> -
|
|
Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
|
|
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Athetosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58593005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58593005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44913001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44913001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004158</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002305</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002305</a>]</span><br /> -
|
|
Dyskinesias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9748009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9748009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013384&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013384</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100660</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100660</a>]</span><br /> -
|
|
Basal ganglion calcifications <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16818591000119108" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16818591000119108</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G23.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G23.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1389280&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1389280</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002135</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Peripheral neuropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42658009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42658009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302226006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302226006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G64" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G64</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/350-359.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">350-359.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4721453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4721453</a>, <a href="https://bioportal.bioontology.org/search?q=C0031117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009830" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009830</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000759" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000759</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001271" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001271</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009830" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009830</a>]</span><br />
|
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|
</span>
|
|
</div>
|
|
</div>
|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Behavioral Psychiatric Manifestations </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Irritability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55929007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55929007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.22</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022107&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022107</a>, <a href="https://bioportal.bioontology.org/search?q=C2700617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2700617</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000737</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000737</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Megaloblastic anemia, folate-responsive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749656</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004851" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004851</a>]</span><br /> -
|
|
Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
|
|
Neutropenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/303011007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">303011007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165517008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165517008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84828003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84828003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.819</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D70.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853697</a>, <a href="https://bioportal.bioontology.org/search?q=C0027947&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027947</a>, <a href="https://bioportal.bioontology.org/search?q=C0023530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023530</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001875</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001875</a>]</span><br /> -
|
|
Leukopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/419188005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">419188005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84828003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84828003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.819</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0750394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0750394</a>, <a href="https://bioportal.bioontology.org/search?q=C0023530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023530</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
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|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> IMMUNOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Recurrent infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/451991000124106" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">451991000124106</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239998&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239998</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002719</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002719</a>]</span><br /> -
|
|
Increased susceptibility to pneumocystis and cytomegalovirus infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749651&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749651</a>]</span><br /> -
|
|
Hypoimmunoglobulinemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749652&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749652</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
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|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Decreased serum folate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165650003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165650003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427423&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427423</a>]</span><br /> -
|
|
Decreased CSF folate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749653&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749653</a>]</span><br /> -
|
|
Low plasma methionine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749654&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749654</a>]</span><br /> -
|
|
Increased urinary formiminoglutamic acid (FIGLU) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749655</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
<div>
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- Caused by mutation in the solute carrier family 46 (folate transporter), member 1 gene (SLC46A1, <a href="/entry/611672#0001">611672.0001</a>)<br />
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<p>A number sign (#) is used with this entry because hereditary folate malabsorption is caused by homozygous or compound heterozygous mutation in the SLC46A1 gene (<a href="/entry/611672">611672</a>) on chromosome 17q11.</p>
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<p>Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system (summary by <a href="#8" class="mim-tip-reference" title="Qiu, A., Jansen, M., Sakaris, A., Min, S. H., Chattopadhyay, S., Tsai, E., Sandoval, C., Zhao, R., Akabas, M. H., Goldman, I. D. <strong>Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.</strong> Cell 127: 917-928, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17129779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17129779</a>] [<a href="https://doi.org/10.1016/j.cell.2006.09.041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17129779">Qiu et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17129779" 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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<p><a href="#7" class="mim-tip-reference" title="Luhby, A. L., Cooperman, J. M., Pesci-Bourel, A. <strong>A new inborn error of metabolism: folic acid responsive megaloblastic anemia, ataxia, mental retardation, and convulsions. (Abstract)</strong> J. Pediat. 67: 1052 only, 1965."None>Luhby et al. (1965)</a> observed affected sisters, and <a href="#4" class="mim-tip-reference" title="Lanzkowsky, P. <strong>Congenital malabsorption of folate.</strong> Am. J. Med. 48: 580-583, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5450108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5450108</a>] [<a href="https://doi.org/10.1016/0002-9343(70)90007-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5450108">Lanzkowsky (1970)</a> described a sporadic case in a 20-year-old. The patients had an isolated defect in intestinal absorption of folic acid and a defect in transport of folic acid across the blood-brain barrier. Recurrent megaloblastic anemia, mental retardation, convulsions, and movement disorder (ataxia in Luhby's cases, athetosis in Lanzkowsky's) were manifestations. Basal ganglion calcification was described in Lanzkowsky's cases. The seizures were said to be reduced by folic acid in Luhby's cases but aggravated by folic acid in Lanzkowsky's. Parenteral folic acid corrected the anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5450108" 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="#1" class="mim-tip-reference" title="Corbeel, L., Van den Berghe, G., Jaeken, J., Van Tornout, J., Eeckels, R. <strong>Congenital folate malabsorption.</strong> Europ. J. Pediat. 143: 284-290, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3987728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3987728</a>] [<a href="https://doi.org/10.1007/BF00442302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3987728">Corbeel et al. (1985)</a> reported a patient in whom oral folic acid cured the anemia, diarrhea, and susceptibility to infections, but failed to prevent convulsions and the development of mental retardation and cerebral calcifications. (Cases of dihydropteridine reductase deficiency (<a href="/entry/261630">261630</a>) in which treatment with folinic acid is not given also develop intracranial calcification (<a href="#16" class="mim-tip-reference" title="Woody, R. C., Brewster, M. A., Glasier, C. <strong>Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy.</strong> Neurology 39: 673-675, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2785251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2785251</a>] [<a href="https://doi.org/10.1212/wnl.39.5.673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2785251">Woody et al., 1989</a>).) <a href="#1" class="mim-tip-reference" title="Corbeel, L., Van den Berghe, G., Jaeken, J., Van Tornout, J., Eeckels, R. <strong>Congenital folate malabsorption.</strong> Europ. J. Pediat. 143: 284-290, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3987728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3987728</a>] [<a href="https://doi.org/10.1007/BF00442302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3987728">Corbeel et al. (1985)</a> were prompted to give methionine along with vitamin B12 and folic acid because of low plasma methionine; the convulsions were controlled. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2785251+3987728" 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 a male patient, <a href="#13" class="mim-tip-reference" title="Steinschneider, M., Sherbany, A., Pavlakis, S., Emerson, R., Lovelace, R., De Vivo, D. C. <strong>Congenital folate malabsorption: reversible clinical and neurophysiologic abnormalities.</strong> Neurology 40: 1315 only, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2381546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2381546</a>] [<a href="https://doi.org/10.1212/wnl.40.8.1315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2381546">Steinschneider et al. (1990)</a> confirmed improvement in the peripheral neuropathy with intramuscular folinic acid therapy as had been reported by <a href="#14" class="mim-tip-reference" title="Su, P. C. <strong>Congenital folate deficiency.</strong> New Eng. J. Med. 294: 1128 only, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/176588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">176588</a>] [<a href="https://doi.org/10.1056/NEJM197605132942026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="176588">Su (1976)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=176588+2381546" 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="#9" class="mim-tip-reference" title="Rosenblatt, D. S., Fenton, W. A. <strong>Inherited disorders of folate and cobalamin transport and metabolism.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic & Molecular Bases of Inherited Disease. Vol. III. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 3902-3903."None>Rosenblatt and Fenton (2001)</a> stated that this disorder had been described in fewer than 20 patients, mostly females.</p><p><a href="#3" class="mim-tip-reference" title="Jebnoun, S., Kacem, S., Mokrani, C., Chabchoub, A., Khrouf, N., Zittoun, J. <strong>A family study of congenital malabsorption of folate.</strong> J. Inherit. Metab. Dis. 24: 749-750, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11804211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11804211</a>] [<a href="https://doi.org/10.1023/a:1012905823879" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11804211">Jebnoun et al. (2001)</a> reported a large family of 8 children (6 males and 2 females) affected by congenital folate malabsorption. The first 5 children (4 boys and 1 girl) died within the first few months of life with diarrhea, vomiting, drowsiness, pallor, and glossitis. The 3 surviving children (1 girl and 2 boys) developed the same symptoms within the first weeks of life. In the surviving girl, studied at 3 months of age, blood cell count showed severe pancytopenia with an aregenerative normocytic anemia, leukopenia, and thrombocytopenia. The peripheral blood smear revealed hypersegmented neutrophils. Bone marrow was hypercellular with an excess of megaloblastic erythroblasts. Folate deficiency was confirmed in serum, red cells, and cerebrospinal fluid (CSF). Methylfolate was undetectable. Congenital malabsorption of folate was confirmed by a folic acid loading test that showed a peak serum folate of 8 microg/liter 2 hours after oral administration of 40 microg/liter folic acid and body saturation 2 days before the test with an injection of 5 mg folinic acid. Intramuscular administration of folinic acid achieved detectable CSF folate levels in a dose-dependent manner. With intermittent folinic acid administration the child had normal growth and hematologic parameters but developed epilepsy at age 4 years and had a low IQ. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11804211" 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="#2" class="mim-tip-reference" title="Geller, J., Kronn, D., Jayabose, S., Sandoval, C. <strong>Hereditary folate malabsorption: family report and review of the literature.</strong> Medicine 81: 51-68, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11807405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11807405</a>] [<a href="https://doi.org/10.1097/00005792-200201000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11807405">Geller et al. (2002)</a> reported 2 Puerto Rican sibs with hereditary folate malabsorption. The female proband presented at 6.5 months of age with recurrent diarrhea, gastroesophageal reflux, frequent upper respiratory infections, bilateral pneumonia, urinary tract infection, eosinophilia, anemia, anorexia, poor weight gain, and oral ulcers. She continued to have infections and diarrhea and required blood and platelet transfusions for anemia and thrombocytopenia. Folate deficiency was diagnosed at age 8 months, and she responded well to folate therapy. Her younger sister was diagnosed with the disorder at age 2 months and responded well to proper treatment. Family history revealed that a deceased sister had also experienced recurrent diarrhea, pulmonary disease, eosinophilia, and seizures; she died from sepsis at age 4 months. <a href="#8" class="mim-tip-reference" title="Qiu, A., Jansen, M., Sakaris, A., Min, S. H., Chattopadhyay, S., Tsai, E., Sandoval, C., Zhao, R., Akabas, M. H., Goldman, I. D. <strong>Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.</strong> Cell 127: 917-928, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17129779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17129779</a>] [<a href="https://doi.org/10.1016/j.cell.2006.09.041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17129779">Qiu et al. (2006)</a> noted that the sisters reported by <a href="#2" class="mim-tip-reference" title="Geller, J., Kronn, D., Jayabose, S., Sandoval, C. <strong>Hereditary folate malabsorption: family report and review of the literature.</strong> Medicine 81: 51-68, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11807405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11807405</a>] [<a href="https://doi.org/10.1097/00005792-200201000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11807405">Geller et al. (2002)</a> developed normally and remained completely well on folate supplements at ages 9 and 6 years, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17129779+11807405" 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="#17" class="mim-tip-reference" title="Zhao, R., Min, S. H., Qiu, A., Sakaris, A., Goldberg, G. L., Sandoval, C., Malatack, J. J., Rosenblatt, D. S., Goldman, I. D. <strong>The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.</strong> Blood 110: 1147-1152, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17446347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17446347</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17446347[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2007-02-077099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17446347">Zhao et al. (2007)</a> reported a male infant of Spanish/Brazilian/Mexican origin with hereditary folate malabsorption. He presented at age 4 months with severe macrocytic anemia and thrombocytopenia. He subsequently developed Pneumocystis carinii pneumonia. He had low serum folate and immunoglobulins. Treatment with folate replacement led to clinical improvement. An older sister had developed pancytopenia at age 3 months and died due to cytomegalovirus pneumonia. Molecular analysis identified compound heterozygosity for 2 mutations in the SLC46A1 gene (<a href="/entry/611672#0004">611672.0004</a> and <a href="/entry/611672#0005">611672.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17446347" 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="#12" class="mim-tip-reference" title="Sofer, Y., Harel, L., Sharkia, M., Amir, J., Schoenfeld, T., Straussberg, R. <strong>Neurological manifestations of folate transport defect: case report and review of the literature.</strong> J. Child Neurol. 22: 783-786, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17641272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17641272</a>] [<a href="https://doi.org/10.1177/0883073807304004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17641272">Sofer et al. (2007)</a> reported an Arab Israeli infant, born of consanguineous parents, with folate malabsorption. He presented at age 15 months with generalized and focal seizures and a decline in mental status. Laboratory tests revealed low folate levels in blood and CSF, accompanied by pancytopenia. Bone marrow aspiration confirmed the presence of megaloblastic anemia. Treatment with high-dose intravenous folinic acid led to normalization of CSF folate levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17641272" 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="#11" class="mim-tip-reference" title="Shin, D. S., Mahadeo, K., Min, S. H., Diop-Bove, N., Clayton, P., Zhao, R., Goldman, I. D. <strong>Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.</strong> Molec. Genet. Metab. 103: 33-37, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21333572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21333572</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21333572[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2011.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21333572">Shin et al. (2011)</a> reported an English boy with hereditary folate malabsorption. The child developed Pneumocystis jiroveci pneumonia associated with anemia and undetectable plasma folate at age 2 months. He later showed delayed motor development, hyperreflexia, jerky movements, tremor, and proximal muscle wasting. Brain MRI at 3 years 9 months showed a slight delay in myelination. He improved neurologically with treatment, but had mild difficulty in fine motor skills and reading but good math skills. He developed occipital seizures at age 5 years. <a href="#11" class="mim-tip-reference" title="Shin, D. S., Mahadeo, K., Min, S. H., Diop-Bove, N., Clayton, P., Zhao, R., Goldman, I. D. <strong>Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.</strong> Molec. Genet. Metab. 103: 33-37, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21333572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21333572</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21333572[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2011.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21333572">Shin et al. (2011)</a> also reported an 8-year-old Tunisian boy, born of consanguineous parents, with hereditary folate malabsorption. The patient developed macrocytic anemia with low serum folate at age 2.5 months. He was treated with leucovorin, which corrected the anemia and axial hypertonia. EEG and head CT scan were normal. Two affected sibs had died. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21333572" 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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<p>Parental consanguinity was noted in the families reported by <a href="#5" class="mim-tip-reference" title="Lanzkowsky, P., Erlandson, M. E., Bezan, A. I. <strong>Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification.</strong> Blood 34: 452-465, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4980683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4980683</a>]" pmid="4980683">Lanzkowsky et al. (1969)</a>, <a href="#10" class="mim-tip-reference" title="Santiago-Borrero, P. J., Santini, R., Jr., Perez-Santiago, E., Maldonado, N. I. <strong>Congenital isolated defect of folic acid absorption.</strong> J. Pediat. 82: 450-455, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4540608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4540608</a>] [<a href="https://doi.org/10.1016/s0022-3476(73)80119-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4540608">Santiago-Borrero et al. (1973)</a>, and <a href="#15" class="mim-tip-reference" title="Urbach, J., Abrahamov, A., Grossowicz, N. <strong>Congenital isolated folic acid malabsorption.</strong> Arch. Dis. Child. 62: 78-80, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3813642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3813642</a>] [<a href="https://doi.org/10.1136/adc.62.1.78" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3813642">Urbach et al. (1987)</a>, supporting autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4980683+4540608+3813642" 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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<p>In 2 sisters with hereditary folate malabsorption (<a href="#2" class="mim-tip-reference" title="Geller, J., Kronn, D., Jayabose, S., Sandoval, C. <strong>Hereditary folate malabsorption: family report and review of the literature.</strong> Medicine 81: 51-68, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11807405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11807405</a>] [<a href="https://doi.org/10.1097/00005792-200201000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11807405">Geller et al., 2002</a>), <a href="#8" class="mim-tip-reference" title="Qiu, A., Jansen, M., Sakaris, A., Min, S. H., Chattopadhyay, S., Tsai, E., Sandoval, C., Zhao, R., Akabas, M. H., Goldman, I. D. <strong>Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.</strong> Cell 127: 917-928, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17129779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17129779</a>] [<a href="https://doi.org/10.1016/j.cell.2006.09.041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17129779">Qiu et al. (2006)</a> identified a homozygous mutation in the SLC46A1 gene (<a href="/entry/611672#0001">611672.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17129779+11807405" 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 5 infants with hereditary folate malabsorption, <a href="#17" class="mim-tip-reference" title="Zhao, R., Min, S. H., Qiu, A., Sakaris, A., Goldberg, G. L., Sandoval, C., Malatack, J. J., Rosenblatt, D. S., Goldman, I. D. <strong>The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.</strong> Blood 110: 1147-1152, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17446347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17446347</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17446347[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2007-02-077099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17446347">Zhao et al. (2007)</a> identified 6 different biallelic mutations in the SLC46A1 gene (see, e.g., <a href="/entry/611672#0002">611672.0002</a>-<a href="/entry/611672#0005">611672.0005</a>). One of the patients had been reported by <a href="#1" class="mim-tip-reference" title="Corbeel, L., Van den Berghe, G., Jaeken, J., Van Tornout, J., Eeckels, R. <strong>Congenital folate malabsorption.</strong> Europ. J. Pediat. 143: 284-290, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3987728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3987728</a>] [<a href="https://doi.org/10.1007/BF00442302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3987728">Corbeel et al. (1985)</a> (R113S; <a href="/entry/611672#0003">611672.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17446347+3987728" 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 affected patient reported by <a href="#12" class="mim-tip-reference" title="Sofer, Y., Harel, L., Sharkia, M., Amir, J., Schoenfeld, T., Straussberg, R. <strong>Neurological manifestations of folate transport defect: case report and review of the literature.</strong> J. Child Neurol. 22: 783-786, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17641272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17641272</a>] [<a href="https://doi.org/10.1177/0883073807304004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17641272">Sofer et al. (2007)</a>, <a href="#6" class="mim-tip-reference" title="Lasry, I., Berman, B., Straussberg, R., Sofer, Y., Bessler, H., Sharkia, M., Glaser, F., Jansen, F., Drori, S., Assaraf, Y. G. <strong>A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.</strong> Blood 112: 2055-2061, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18559978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18559978</a>] [<a href="https://doi.org/10.1182/blood-2008-04-150276" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18559978">Lasry et al. (2008)</a> identified a homozygous mutation in the SLC46A1 gene (<a href="/entry/611672#0006">611672.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18559978+17641272" 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 a Tunisian patient, born of consanguineous parents, with hereditary folate malabsorption, previously reported by <a href="#3" class="mim-tip-reference" title="Jebnoun, S., Kacem, S., Mokrani, C., Chabchoub, A., Khrouf, N., Zittoun, J. <strong>A family study of congenital malabsorption of folate.</strong> J. Inherit. Metab. Dis. 24: 749-750, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11804211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11804211</a>] [<a href="https://doi.org/10.1023/a:1012905823879" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11804211">Jebnoun et al., 2001</a>, <a href="#11" class="mim-tip-reference" title="Shin, D. S., Mahadeo, K., Min, S. H., Diop-Bove, N., Clayton, P., Zhao, R., Goldman, I. D. <strong>Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.</strong> Molec. Genet. Metab. 103: 33-37, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21333572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21333572</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21333572[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2011.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21333572">Shin et al. (2011)</a> identified a homozygous mutation in the SLC46A1 gene (<a href="/entry/611672#0007">611672.0007</a>). They also identified compound heterozygosity for 2 mutations in the SLC46A1 gene (<a href="/entry/611672#0008">611672.0008</a> and <a href="/entry/611672#0009">611672.0009</a>) in an English boy with the disorder and identified a homozygous mutation (<a href="/entry/611672#0010">611672.0010</a>) in another unrelated Tunisian patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21333572+11804211" 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="Corbeel1985" class="mim-anchor"></a>
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Corbeel, L., Van den Berghe, G., Jaeken, J., Van Tornout, J., Eeckels, R.
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<strong>Congenital folate malabsorption.</strong>
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Europ. J. Pediat. 143: 284-290, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3987728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3987728</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3987728" 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/10.1007/BF00442302" target="_blank">Full Text</a>]
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Geller, J., Kronn, D., Jayabose, S., Sandoval, C.
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<strong>Hereditary folate malabsorption: family report and review of the literature.</strong>
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Medicine 81: 51-68, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11807405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11807405</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11807405" 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/10.1097/00005792-200201000-00004" target="_blank">Full Text</a>]
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Jebnoun, S., Kacem, S., Mokrani, C., Chabchoub, A., Khrouf, N., Zittoun, J.
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<strong>A family study of congenital malabsorption of folate.</strong>
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J. Inherit. Metab. Dis. 24: 749-750, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11804211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11804211</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11804211" 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/10.1023/a:1012905823879" target="_blank">Full Text</a>]
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Lanzkowsky, P.
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<strong>Congenital malabsorption of folate.</strong>
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Am. J. Med. 48: 580-583, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5450108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5450108</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5450108" 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/10.1016/0002-9343(70)90007-0" target="_blank">Full Text</a>]
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Lanzkowsky, P., Erlandson, M. E., Bezan, A. I.
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<strong>Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification.</strong>
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Blood 34: 452-465, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4980683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4980683</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4980683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.</strong>
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Blood 112: 2055-2061, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18559978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18559978</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18559978" 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/10.1182/blood-2008-04-150276" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Luhby1965" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Luhby, A. L., Cooperman, J. M., Pesci-Bourel, A.
|
|
<strong>A new inborn error of metabolism: folic acid responsive megaloblastic anemia, ataxia, mental retardation, and convulsions. (Abstract)</strong>
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J. Pediat. 67: 1052 only, 1965.
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</p>
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</div>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Qiu2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Qiu, A., Jansen, M., Sakaris, A., Min, S. H., Chattopadhyay, S., Tsai, E., Sandoval, C., Zhao, R., Akabas, M. H., Goldman, I. D.
|
|
<strong>Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.</strong>
|
|
Cell 127: 917-928, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17129779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17129779</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17129779" 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.cell.2006.09.041" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Rosenblatt2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rosenblatt, D. S., Fenton, W. A.
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|
<strong>Inherited disorders of folate and cobalamin transport and metabolism.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic & Molecular Bases of Inherited Disease. Vol. III. (8th ed.)</strong>
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New York: McGraw-Hill (pub.) 2001. Pp. 3902-3903.
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Santiago-Borrero1973" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Santiago-Borrero, P. J., Santini, R., Jr., Perez-Santiago, E., Maldonado, N. I.
|
|
<strong>Congenital isolated defect of folic acid absorption.</strong>
|
|
J. Pediat. 82: 450-455, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4540608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4540608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4540608" 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/s0022-3476(73)80119-2" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Shin2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shin, D. S., Mahadeo, K., Min, S. H., Diop-Bove, N., Clayton, P., Zhao, R., Goldman, I. D.
|
|
<strong>Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.</strong>
|
|
Molec. Genet. Metab. 103: 33-37, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21333572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21333572</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21333572[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21333572" 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.2011.01.008" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Sofer2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sofer, Y., Harel, L., Sharkia, M., Amir, J., Schoenfeld, T., Straussberg, R.
|
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<strong>Neurological manifestations of folate transport defect: case report and review of the literature.</strong>
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J. Child Neurol. 22: 783-786, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17641272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17641272</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17641272" 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/10.1177/0883073807304004" target="_blank">Full Text</a>]
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Steinschneider1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Steinschneider, M., Sherbany, A., Pavlakis, S., Emerson, R., Lovelace, R., De Vivo, D. C.
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<strong>Congenital folate malabsorption: reversible clinical and neurophysiologic abnormalities.</strong>
|
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Neurology 40: 1315 only, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2381546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2381546</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2381546" 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/10.1212/wnl.40.8.1315" target="_blank">Full Text</a>]
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Su1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Su, P. C.
|
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<strong>Congenital folate deficiency.</strong>
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New Eng. J. Med. 294: 1128 only, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/176588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">176588</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=176588" 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/10.1056/NEJM197605132942026" target="_blank">Full Text</a>]
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Urbach1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Urbach, J., Abrahamov, A., Grossowicz, N.
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<strong>Congenital isolated folic acid malabsorption.</strong>
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Arch. Dis. Child. 62: 78-80, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3813642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3813642</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3813642" 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/10.1136/adc.62.1.78" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Woody1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Woody, R. C., Brewster, M. A., Glasier, C.
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<strong>Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy.</strong>
|
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Neurology 39: 673-675, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2785251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2785251</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2785251" 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/10.1212/wnl.39.5.673" target="_blank">Full Text</a>]
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Zhao2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhao, R., Min, S. H., Qiu, A., Sakaris, A., Goldberg, G. L., Sandoval, C., Malatack, J. J., Rosenblatt, D. S., Goldman, I. D.
|
|
<strong>The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.</strong>
|
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Blood 110: 1147-1152, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17446347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17446347</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17446347[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17446347" 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/10.1182/blood-2007-02-077099" target="_blank">Full Text</a>]
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</ol>
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<div>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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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 - updated : 5/19/2011
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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 - updated : 4/20/2009<br>Ada Hamosh - updated : 1/30/2002
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</span>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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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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Victor A. McKusick : 6/3/1986
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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carol : 07/09/2016
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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wwang : 6/6/2011<br>ckniffin : 5/19/2011<br>wwang : 4/23/2009<br>wwang : 4/20/2009<br>ckniffin : 4/20/2009<br>carol : 3/19/2009<br>alopez : 3/18/2004<br>alopez : 2/4/2002<br>terry : 1/30/2002<br>davew : 8/19/1994<br>terry : 4/18/1994<br>warfield : 3/8/1994<br>mimadm : 2/19/1994<br>carol : 11/20/1992<br>supermim : 3/16/1992
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<span class="mim-font">
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<strong>#</strong> 229050
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<div>
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<h3>
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<span class="mim-font">
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FOLATE MALABSORPTION, HEREDITARY
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 62578003;
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<strong>ORPHA:</strong> 90045;
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<strong>DO:</strong> 0111678;
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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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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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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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</th>
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</tr>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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17q11.2
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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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Folate malabsorption, hereditary
|
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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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229050
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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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Autosomal recessive
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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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<span class="mim-font">
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SLC46A1
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<span class="mim-font">
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611672
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<span class="mim-font">
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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 hereditary folate malabsorption is caused by homozygous or compound heterozygous mutation in the SLC46A1 gene (611672) on chromosome 17q11.</p>
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<strong>Description</strong>
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<p>Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system (summary by Qiu et al., 2006). </p>
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<strong>Clinical Features</strong>
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<p>Luhby et al. (1965) observed affected sisters, and Lanzkowsky (1970) described a sporadic case in a 20-year-old. The patients had an isolated defect in intestinal absorption of folic acid and a defect in transport of folic acid across the blood-brain barrier. Recurrent megaloblastic anemia, mental retardation, convulsions, and movement disorder (ataxia in Luhby's cases, athetosis in Lanzkowsky's) were manifestations. Basal ganglion calcification was described in Lanzkowsky's cases. The seizures were said to be reduced by folic acid in Luhby's cases but aggravated by folic acid in Lanzkowsky's. Parenteral folic acid corrected the anemia. </p><p>Corbeel et al. (1985) reported a patient in whom oral folic acid cured the anemia, diarrhea, and susceptibility to infections, but failed to prevent convulsions and the development of mental retardation and cerebral calcifications. (Cases of dihydropteridine reductase deficiency (261630) in which treatment with folinic acid is not given also develop intracranial calcification (Woody et al., 1989).) Corbeel et al. (1985) were prompted to give methionine along with vitamin B12 and folic acid because of low plasma methionine; the convulsions were controlled. </p><p>In a male patient, Steinschneider et al. (1990) confirmed improvement in the peripheral neuropathy with intramuscular folinic acid therapy as had been reported by Su (1976). </p><p>Rosenblatt and Fenton (2001) stated that this disorder had been described in fewer than 20 patients, mostly females.</p><p>Jebnoun et al. (2001) reported a large family of 8 children (6 males and 2 females) affected by congenital folate malabsorption. The first 5 children (4 boys and 1 girl) died within the first few months of life with diarrhea, vomiting, drowsiness, pallor, and glossitis. The 3 surviving children (1 girl and 2 boys) developed the same symptoms within the first weeks of life. In the surviving girl, studied at 3 months of age, blood cell count showed severe pancytopenia with an aregenerative normocytic anemia, leukopenia, and thrombocytopenia. The peripheral blood smear revealed hypersegmented neutrophils. Bone marrow was hypercellular with an excess of megaloblastic erythroblasts. Folate deficiency was confirmed in serum, red cells, and cerebrospinal fluid (CSF). Methylfolate was undetectable. Congenital malabsorption of folate was confirmed by a folic acid loading test that showed a peak serum folate of 8 microg/liter 2 hours after oral administration of 40 microg/liter folic acid and body saturation 2 days before the test with an injection of 5 mg folinic acid. Intramuscular administration of folinic acid achieved detectable CSF folate levels in a dose-dependent manner. With intermittent folinic acid administration the child had normal growth and hematologic parameters but developed epilepsy at age 4 years and had a low IQ. </p><p>Geller et al. (2002) reported 2 Puerto Rican sibs with hereditary folate malabsorption. The female proband presented at 6.5 months of age with recurrent diarrhea, gastroesophageal reflux, frequent upper respiratory infections, bilateral pneumonia, urinary tract infection, eosinophilia, anemia, anorexia, poor weight gain, and oral ulcers. She continued to have infections and diarrhea and required blood and platelet transfusions for anemia and thrombocytopenia. Folate deficiency was diagnosed at age 8 months, and she responded well to folate therapy. Her younger sister was diagnosed with the disorder at age 2 months and responded well to proper treatment. Family history revealed that a deceased sister had also experienced recurrent diarrhea, pulmonary disease, eosinophilia, and seizures; she died from sepsis at age 4 months. Qiu et al. (2006) noted that the sisters reported by Geller et al. (2002) developed normally and remained completely well on folate supplements at ages 9 and 6 years, respectively. </p><p>Zhao et al. (2007) reported a male infant of Spanish/Brazilian/Mexican origin with hereditary folate malabsorption. He presented at age 4 months with severe macrocytic anemia and thrombocytopenia. He subsequently developed Pneumocystis carinii pneumonia. He had low serum folate and immunoglobulins. Treatment with folate replacement led to clinical improvement. An older sister had developed pancytopenia at age 3 months and died due to cytomegalovirus pneumonia. Molecular analysis identified compound heterozygosity for 2 mutations in the SLC46A1 gene (611672.0004 and 611672.0005). </p><p>Sofer et al. (2007) reported an Arab Israeli infant, born of consanguineous parents, with folate malabsorption. He presented at age 15 months with generalized and focal seizures and a decline in mental status. Laboratory tests revealed low folate levels in blood and CSF, accompanied by pancytopenia. Bone marrow aspiration confirmed the presence of megaloblastic anemia. Treatment with high-dose intravenous folinic acid led to normalization of CSF folate levels. </p><p>Shin et al. (2011) reported an English boy with hereditary folate malabsorption. The child developed Pneumocystis jiroveci pneumonia associated with anemia and undetectable plasma folate at age 2 months. He later showed delayed motor development, hyperreflexia, jerky movements, tremor, and proximal muscle wasting. Brain MRI at 3 years 9 months showed a slight delay in myelination. He improved neurologically with treatment, but had mild difficulty in fine motor skills and reading but good math skills. He developed occipital seizures at age 5 years. Shin et al. (2011) also reported an 8-year-old Tunisian boy, born of consanguineous parents, with hereditary folate malabsorption. The patient developed macrocytic anemia with low serum folate at age 2.5 months. He was treated with leucovorin, which corrected the anemia and axial hypertonia. EEG and head CT scan were normal. Two affected sibs had died. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Parental consanguinity was noted in the families reported by Lanzkowsky et al. (1969), Santiago-Borrero et al. (1973), and Urbach et al. (1987), supporting autosomal recessive inheritance. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In 2 sisters with hereditary folate malabsorption (Geller et al., 2002), Qiu et al. (2006) identified a homozygous mutation in the SLC46A1 gene (611672.0001). </p><p>In 5 infants with hereditary folate malabsorption, Zhao et al. (2007) identified 6 different biallelic mutations in the SLC46A1 gene (see, e.g., 611672.0002-611672.0005). One of the patients had been reported by Corbeel et al. (1985) (R113S; 611672.0003). </p><p>In an affected patient reported by Sofer et al. (2007), Lasry et al. (2008) identified a homozygous mutation in the SLC46A1 gene (611672.0006). </p><p>In a Tunisian patient, born of consanguineous parents, with hereditary folate malabsorption, previously reported by Jebnoun et al., 2001, Shin et al. (2011) identified a homozygous mutation in the SLC46A1 gene (611672.0007). They also identified compound heterozygosity for 2 mutations in the SLC46A1 gene (611672.0008 and 611672.0009) in an English boy with the disorder and identified a homozygous mutation (611672.0010) in another unrelated Tunisian patient. </p>
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<div>
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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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<div>
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<p />
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</div>
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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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Corbeel, L., Van den Berghe, G., Jaeken, J., Van Tornout, J., Eeckels, R.
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<strong>Congenital folate malabsorption.</strong>
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Europ. J. Pediat. 143: 284-290, 1985.
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[PubMed: 3987728]
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[Full Text: https://doi.org/10.1007/BF00442302]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Geller, J., Kronn, D., Jayabose, S., Sandoval, C.
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<strong>Hereditary folate malabsorption: family report and review of the literature.</strong>
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Medicine 81: 51-68, 2002.
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[PubMed: 11807405]
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[Full Text: https://doi.org/10.1097/00005792-200201000-00004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Jebnoun, S., Kacem, S., Mokrani, C., Chabchoub, A., Khrouf, N., Zittoun, J.
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<strong>A family study of congenital malabsorption of folate.</strong>
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J. Inherit. Metab. Dis. 24: 749-750, 2001.
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[PubMed: 11804211]
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[Full Text: https://doi.org/10.1023/a:1012905823879]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lanzkowsky, P.
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<strong>Congenital malabsorption of folate.</strong>
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Am. J. Med. 48: 580-583, 1970.
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[PubMed: 5450108]
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[Full Text: https://doi.org/10.1016/0002-9343(70)90007-0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lanzkowsky, P., Erlandson, M. E., Bezan, A. I.
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<strong>Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification.</strong>
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Blood 34: 452-465, 1969.
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[PubMed: 4980683]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lasry, I., Berman, B., Straussberg, R., Sofer, Y., Bessler, H., Sharkia, M., Glaser, F., Jansen, F., Drori, S., Assaraf, Y. G.
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<strong>A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.</strong>
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Blood 112: 2055-2061, 2008.
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[PubMed: 18559978]
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[Full Text: https://doi.org/10.1182/blood-2008-04-150276]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Luhby, A. L., Cooperman, J. M., Pesci-Bourel, A.
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<strong>A new inborn error of metabolism: folic acid responsive megaloblastic anemia, ataxia, mental retardation, and convulsions. (Abstract)</strong>
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J. Pediat. 67: 1052 only, 1965.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Qiu, A., Jansen, M., Sakaris, A., Min, S. H., Chattopadhyay, S., Tsai, E., Sandoval, C., Zhao, R., Akabas, M. H., Goldman, I. D.
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<strong>Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.</strong>
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Cell 127: 917-928, 2006.
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[PubMed: 17129779]
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[Full Text: https://doi.org/10.1016/j.cell.2006.09.041]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Rosenblatt, D. S., Fenton, W. A.
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<strong>Inherited disorders of folate and cobalamin transport and metabolism.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic & Molecular Bases of Inherited Disease. Vol. III. (8th ed.)</strong>
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New York: McGraw-Hill (pub.) 2001. Pp. 3902-3903.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Santiago-Borrero, P. J., Santini, R., Jr., Perez-Santiago, E., Maldonado, N. I.
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<strong>Congenital isolated defect of folic acid absorption.</strong>
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J. Pediat. 82: 450-455, 1973.
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[PubMed: 4540608]
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[Full Text: https://doi.org/10.1016/s0022-3476(73)80119-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Shin, D. S., Mahadeo, K., Min, S. H., Diop-Bove, N., Clayton, P., Zhao, R., Goldman, I. D.
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<strong>Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.</strong>
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Molec. Genet. Metab. 103: 33-37, 2011.
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[PubMed: 21333572]
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[Full Text: https://doi.org/10.1016/j.ymgme.2011.01.008]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Sofer, Y., Harel, L., Sharkia, M., Amir, J., Schoenfeld, T., Straussberg, R.
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<strong>Neurological manifestations of folate transport defect: case report and review of the literature.</strong>
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J. Child Neurol. 22: 783-786, 2007.
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[PubMed: 17641272]
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[Full Text: https://doi.org/10.1177/0883073807304004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Steinschneider, M., Sherbany, A., Pavlakis, S., Emerson, R., Lovelace, R., De Vivo, D. C.
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<strong>Congenital folate malabsorption: reversible clinical and neurophysiologic abnormalities.</strong>
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Neurology 40: 1315 only, 1990.
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[PubMed: 2381546]
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[Full Text: https://doi.org/10.1212/wnl.40.8.1315]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Su, P. C.
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<strong>Congenital folate deficiency.</strong>
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New Eng. J. Med. 294: 1128 only, 1976.
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[PubMed: 176588]
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[Full Text: https://doi.org/10.1056/NEJM197605132942026]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Urbach, J., Abrahamov, A., Grossowicz, N.
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<strong>Congenital isolated folic acid malabsorption.</strong>
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Arch. Dis. Child. 62: 78-80, 1987.
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[PubMed: 3813642]
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[Full Text: https://doi.org/10.1136/adc.62.1.78]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Woody, R. C., Brewster, M. A., Glasier, C.
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<strong>Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy.</strong>
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Neurology 39: 673-675, 1989.
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[PubMed: 2785251]
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[Full Text: https://doi.org/10.1212/wnl.39.5.673]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Zhao, R., Min, S. H., Qiu, A., Sakaris, A., Goldberg, G. L., Sandoval, C., Malatack, J. J., Rosenblatt, D. S., Goldman, I. D.
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<strong>The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.</strong>
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Blood 110: 1147-1152, 2007.
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[PubMed: 17446347]
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[Full Text: https://doi.org/10.1182/blood-2007-02-077099]
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<span class="text-nowrap mim-text-font">
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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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Cassandra L. Kniffin - updated : 5/19/2011<br>Cassandra L. Kniffin - updated : 4/20/2009<br>Ada Hamosh - updated : 1/30/2002
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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Edit History:
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carol : 07/09/2016<br>wwang : 6/6/2011<br>ckniffin : 5/19/2011<br>wwang : 4/23/2009<br>wwang : 4/20/2009<br>ckniffin : 4/20/2009<br>carol : 3/19/2009<br>alopez : 3/18/2004<br>alopez : 2/4/2002<br>terry : 1/30/2002<br>davew : 8/19/1994<br>terry : 4/18/1994<br>warfield : 3/8/1994<br>mimadm : 2/19/1994<br>carol : 11/20/1992<br>supermim : 3/16/1992
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