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Entry
- #252150 - MOLYBDENUM COFACTOR DEFICIENCY, TYPE A; MOCODA
- OMIM
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<span class="h4">#252150</span>
<br />
<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/252150"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS252150"> <strong>Phenotypic Series</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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<li role="presentation" style="margin-left: 1em">
<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalManagement">Clinical Management</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#seeAlso"><strong>See Also</strong></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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<div><a href="https://clinicaltrials.gov/search?cond=MOLYBDENUM COFACTOR DEFICIENCY, TYPE A" 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 style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21306&Typ=Pat" title="Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Sulfite oxidase deficiency…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=468&Typ=Pat" title="Encephalopathy due to sulfite oxidase deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Encephalopathy due to sulf…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14305&Typ=Pat" title="Sulfite oxidase deficiency due to molybdenum cofactor deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Sulfite oxidase deficiency…&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK575630/" 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>
<div><a href="https://www.diseaseinfosearch.org/x/8012" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=252150[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>
<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Orphanet</div>
<div id="mimOrphanetFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=308386" title="Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Sulfite oxidase deficiency…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=833" title="Encephalopathy due to sulfite oxidase deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Encephalopathy due to sulf…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99732" title="Sulfite oxidase deficiency due to molybdenum cofactor deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Sulfite oxidase deficiency…</a></div>
</div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0111164" 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>
<div><a href="http://www.informatics.jax.org/disease/252150" 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>
<div><a href="https://omia.org/OMIA001541/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0111164" 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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:252150" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 1003367004<br />
<strong>ORPHA:</strong> 308386, 833, 99732<br />
<strong>DO:</strong> 0111164<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
252150
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MOLYBDENUM COFACTOR DEFICIENCY, TYPE A; MOCODA
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A<br />
SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/468?start=-3&limit=10&highlight=468">
6p21.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Molybdenum cofactor deficiency A
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252150"> 252150 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
MOCS1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603707"> 603707 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/252150" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<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')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS252150" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/252150" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/252150" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<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>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- 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 />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Poor growth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Frontal bossing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90145001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Frontal_Bossing-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Long face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836047&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836047</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000276</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000276</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Long-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Puffy cheeks <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806443</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000293</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000293</a>]</span><br /> -
Long philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865014&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865014</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Philtrum,Long-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dislocated lenses <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H27.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H27.10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H27.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H27.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023309</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001083</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0012019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012019</a>]</span><br /> -
Spherophakia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4465002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4465002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q12.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q12.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034375" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034375</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034375" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034375</a>]</span><br /> -
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
Elongated palpebral fissures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806444&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806444</a>]</span><br /> -
Widely spaced eyes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small nose <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249310005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249310005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426414&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426414</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=25661c4279536e7705f328dbb0964878" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nose,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=25661c4279536e7705f328dbb0964878&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Thick lips <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836543</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012471" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012471</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012471" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012471</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- 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 />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Asymmetric skull <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248372000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248372000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424690&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424690</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002678</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Myoclonic spasms <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806442</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003739</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003739</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Absent or delayed psychomotor development, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806440</a>]</span><br /> -
Seizures, intractable <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674422</a>]</span><br /> -
Opisthotonos <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8652009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8652009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002179" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002179</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002179" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002179</a>]</span><br /> -
Hypertonicity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56731001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56731001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41581000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41581000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026826&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026826</a>, <a href="https://bioportal.bioontology.org/search?q=C0235396&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235396</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001276</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001276</a>]</span><br /> -
Spastic quadriplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192965001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192965001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426970&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426970</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002510</a>]</span><br /> -
Cerebral atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span><br /> -
Thinning of the corpus callosum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5441562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033725</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033725</a>]</span><br /> -
Gliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/359580009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">359580009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81415000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81415000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887640&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887640</a>, <a href="https://bioportal.bioontology.org/search?q=C0017639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017639</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002171</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002446" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002446</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002171</a>]</span><br /> -
Demyelination <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32693004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32693004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878575&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878575</a>, <a href="https://bioportal.bioontology.org/search?q=C0011304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011304</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011096" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011096</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011096" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011096</a>]</span><br /> -
Axonal loss <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832338&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832338</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003447</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003447</a>]</span><br /> -
Cystic lysis of the deep white matter <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806441&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806441</a>]</span><br /> -
Enlarged ventricles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypouricemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4519003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4519003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221333&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221333</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003537</a>]</span><br /> -
Increased urinary xanthine <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/190919008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">190919008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220988&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220988</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010934" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010934</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010934" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010934</a>]</span><br /> -
Increased urinary hypoxanthine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3810487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810487</a>]</span><br /> -
Increased urinary S-sulfocysteine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806446</a>]</span><br /> -
Increased urinary taurine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806447</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003166</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003166</a>]</span><br /> -
Xanthine stones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848431&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848431</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000804" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000804</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000804" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000804</a>]</span><br /> -
Decreased xanthine dehydrogenase activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806448&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806448</a>]</span><br /> -
Decreased sulfite oxidase activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806449&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806449</a>]</span><br /> -
Molybdenum cofactor deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29692004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29692004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268119&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268119</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003570" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003570</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003570" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003570</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset at birth or in early infancy<br /> -
Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
Most affected patients die in childhood<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the molybdenum cofactor synthesis gene 1 (MOCS1, <a href="/entry/603707#0001">603707.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Molybdenum cofactor deficiency
- <a href="/phenotypicSeries/PS252150">PS252150</a>
- 3 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/157?start=-3&limit=10&highlight=157"> 5q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252160"> Molybdenum cofactor deficiency B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252160"> 252160 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603708"> MOCS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603708"> 603708 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/468?start=-3&limit=10&highlight=468"> 6p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252150"> Molybdenum cofactor deficiency A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252150"> 252150 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603707"> MOCS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603707"> 603707 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/321?start=-3&limit=10&highlight=321"> 14q23.3-q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615501"> Molybdenum cofactor deficiency C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<a href="/entry/615501"> 615501 </a>
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<a href="/entry/603930"> GPHN </a>
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<a href="/entry/603930"> 603930 </a>
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<p>A number sign (#) is used with this entry because molybdenum cofactor deficiency type A (MOCODA) is caused by homozygous or compound heterozygous mutation in the MOCS1 gene (<a href="/entry/603707">603707</a>) on chromosome 6p21.</p>
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<p>Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH; <a href="/entry/607633">607633</a>) and sulfite oxidase (SUOX; <a href="/entry/606887">606887</a>), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by <a href="#22" class="mim-tip-reference" title="Reiss, J. &lt;strong&gt;Genetics of molybdenum cofactor deficiency.&lt;/strong&gt; Hum. Genet. 106: 157-163, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10746556/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10746556&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390051023&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10746556">Reiss, 2000</a>; <a href="#21" class="mim-tip-reference" title="Reiss, J., Lenz, U., Aquaviva-Bourdain, C., Joriot-Chekaf, S., Mention-Mulliez, K., Holder-Espinasse, M. &lt;strong&gt;A GPHN point mutation leading to molybdenum cofactor deficiency. (Letter)&lt;/strong&gt; Clin. Genet. 80: 598-599, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22040219/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22040219&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2011.01709.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22040219">Reiss et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22040219+10746556" 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><strong><em>Genetic Heterogeneity of Molybdenum Cofactor Deficiency</em></strong></p><p>
See also MOCOD type B (MOCODB; <a href="/entry/252160">252160</a>), caused by mutation in the MOCS2 gene (<a href="/entry/603708">603708</a>) on chromosome 5q11; and MOCOD type C (MOCODC; <a href="/entry/615501">615501</a>), caused by mutation in the GPHN gene (<a href="/entry/603930">603930</a>) on chromosome 14q24.</p>
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<p><a href="#5" class="mim-tip-reference" title="Duran, M., Beemer, F. A., v. d. Heiden, C., Korteland, J., de Bree, P. K., Brink, M., Wadman, S. K. &lt;strong&gt;Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport?&lt;/strong&gt; J. Inherit. Metab. Dis. 1: 175-178, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/117254/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;117254&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01805591&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="117254">Duran et al. (1978)</a> reported a female infant with a combination of sulfite oxidase deficiency (<a href="/entry/272300">272300</a>) and xanthine oxidase deficiency (<a href="/entry/278300">278300</a>). She presented at age 10 days with poor feeding, tonic-clonic seizures, EEG abnormalities, and dysmorphic features, including frontal bossing, asymmetry of the skull, and subtle medio-facial dysplasia. She also had nystagmus, enophthalmos, and dislocated lenses. Laboratory studies showed low serum uric acid, and urinary analysis showed increased excretion of xanthine, hypoxanthine, S-sulfocysteine, and taurine. At age 14 months, she was noted to have excretion of xanthine stones. At age 2 years, she had poor head control, hypertonia, no reaction to light, and essentially no psychomotor development. Xanthine oxidase activity was demonstrated to be absent in patient cells, but sulfite oxidase activity was difficult to determine. However, the excretion of sulfur-containing metabolites was consistent with decreased sulfite oxidase activity. Serum molybdenum concentration was normal. <a href="#10" class="mim-tip-reference" title="Johnson, J. L., Waud, W. R., Rajagopalan, K. V., Duran, M., Beemer, F. A., Wadman, S. K. &lt;strong&gt;Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.&lt;/strong&gt; Proc. Nat. Acad. Sci. 77: 3715-3719, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6997882/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6997882&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.77.6.3715&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6997882">Johnson et al. (1980)</a> reported further studies on the patient reported by <a href="#5" class="mim-tip-reference" title="Duran, M., Beemer, F. A., v. d. Heiden, C., Korteland, J., de Bree, P. K., Brink, M., Wadman, S. K. &lt;strong&gt;Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport?&lt;/strong&gt; J. Inherit. Metab. Dis. 1: 175-178, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/117254/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;117254&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01805591&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="117254">Duran et al. (1978)</a>, who was bedridden and had not achieved any milestones by age 3 years. Hepatic tissue from the patient showed deficient activities of both sulfite oxidase and xanthine dehydrogenase, secondary to deficient synthesis of the molybdenum cofactor. Molybdenum was absent in the liver sample despite normal serum levels of the metal; however, the active molybdenum cofactor was not detectable in the liver. The clinical features were attributed mainly to the deficiency of sulfite oxidase; urinary xanthine stones were presumably the only manifestation of the xanthine oxidase deficiency. There was also indirect biochemical evidence of aldehyde oxidase (AOX1; <a href="/entry/602841">602841</a>) deficiency. <a href="#10" class="mim-tip-reference" title="Johnson, J. L., Waud, W. R., Rajagopalan, K. V., Duran, M., Beemer, F. A., Wadman, S. K. &lt;strong&gt;Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.&lt;/strong&gt; Proc. Nat. Acad. Sci. 77: 3715-3719, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6997882/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6997882&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.77.6.3715&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6997882">Johnson et al. (1980)</a> concluded that the patient had a primary defect in an essential step of the biosynthesis of the active molybdenum cofactor. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=117254+6997882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Beemer, F. A. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Utrecht, The Netherlands 1/15/1981."None>Beemer (1981)</a> identified this disorder in a second patient, a male newborn, whose parents were born in the same region of Holland as the parents of the first patient, with at least 2 links between the pedigrees. By 1983, according to <a href="#30" class="mim-tip-reference" title="Wadman, S. K., Cats, B. P., de Bree, P. K. &lt;strong&gt;Sulfite oxidase deficiency and the detection of urinary sulfite. (Letter)&lt;/strong&gt; Europ. J. Pediat. 141: 62-63, 1983."None>Wadman et al. (1983)</a>, there were more cases of sulfite oxidase deficiency due to a defect in the molybdenum cofactor than cases of isolated sulfite oxidase deficiency. Convulsions, feeding difficulties, mental retardation, and lens dislocation occurred in both the isolated and the combined forms. In the combined form, abnormal muscle tone, myoclonic spasms, and an abnormal physiognomy had also been reported.</p><p><a href="#6" class="mim-tip-reference" title="Endres, W., Shin, Y. S., Gunther, R., Ibel, H., Duran, M., Wadman, S. K. &lt;strong&gt;Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency.&lt;/strong&gt; Europ. J. Pediat. 148: 246-249, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3215199/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3215199&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00441412&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3215199">Endres et al. (1988)</a> reported a newborn infant with seizures and spastic tetraparesis at the age of 1 week who excreted excessive amounts of sulfite, taurine, S-sulfocysteine and thiosulfate, characteristic of sulfite oxidase deficiency. In addition, increased renal excretion of xanthine and hypoxanthine combined with a low serum and urinary uric acid was consistent with xanthine dehydrogenase deficiency. Both deficiencies were established at the enzyme level. Attempts at treatment were unsuccessful. The patient developed a severe neurologic syndrome, brain atrophy, and lens dislocation, and died at the age of 22 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3215199" 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="#28" class="mim-tip-reference" title="Slot, H. M. J., Overweg-Plandsoen, W. C. G., Bakker, H. D., Abeling, N. G. G. M., Tamminga, P., Barth, P. G., Van Gennip, A. H. &lt;strong&gt;Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions.&lt;/strong&gt; Neuropediatrics 24: 139-142, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8355818/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8355818&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2008-1071531&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8355818">Slot et al. (1993)</a> reported 2 unrelated patients with MOCOD who presented with neonatal convulsions. The parents in one case were second cousins. One infant died at the age of 10 days and was found to have severe loss of neocortical neurons, predominantly affecting the deeper layers, well-established gliosis of the white matter, and areas of cystic lysis in the white matter. In the case of the second infant, death occurred at the age of about 1 year. Postmortem examination, like clinical examination, disclosed no lens luxation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8355818" 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="#16" class="mim-tip-reference" title="Parini, R., Briscioli, V., Caruso, U., Dorche, C., Fortuna, R., Minniti, G., Selicorni, A., Vismara, E., Mancini, G. &lt;strong&gt;Spherophakia associated with molybdenum cofactor deficiency.&lt;/strong&gt; Am. J. Med. Genet. 73: 272-275, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9415683/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9415683&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19971219)73:3&lt;272::aid-ajmg8&gt;3.0.co;2-u&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9415683">Parini et al. (1997)</a> described a patient with molybdenum cofactor deficiency in which lens dislocation developed late (at the age of 8 years) and was preceded by bilateral spherophakia. The authors hypothesized that the cause of spherophakia in this disorder is an abnormal relaxation of the zonular fibers, which eventually causes lens dislocation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9415683" 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>Patients with MOCOD have recognizable dysmorphic facial features, including long face with puffy cheeks, widely spaced eyes, elongated palpebral fissures, thick lips, long philtrum, and small nose. Some patients develop progressive microcephaly, whereas others have macrocephaly secondary to hydrocephalus. Neuropathologic findings include brain atrophy, neuronal loss, astrocytic gliosis, cystic changes in the subcortical white matter, thin corpus callosum, enlarged ventricles, and demyelination (summary by <a href="#8" class="mim-tip-reference" title="Johnson, J. L., Duran, M. &lt;strong&gt;Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)&lt;/strong&gt; New York: McGraw-Hill (pub.) 2001. Pp. 3163-3177."None>Johnson and Duran, 2001</a>).</p><p><a href="#15" class="mim-tip-reference" title="Mechler, K., Mountford, W. K., Hoffmann, G. F., Ries, M. &lt;strong&gt;Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency.&lt;/strong&gt; Genet. Med. 17: 965-970, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25764214/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25764214&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2015.12&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25764214">Mechler et al. (2015)</a> reported a natural history of molybdenum cofactor deficiency with pooled data. Of 82 children, 70% were classified as MOCD not otherwise specified because the molecular basis was not known; 15% were MOCODA, 10% were MOCODB, and 6% were MOCODC. In this cohort, 42% were female, 45% were male, and 13% were of unknown sex. Affected sibs were present in 38%, absent in 60%, and unknown in 2%. At last follow-up, 51% were alive and 49% had died. The median survival overall was 36 months. The initial cardinal disease features at onset were seizures (72%) as well as feeding difficulties (25%) and hypotonia (11%). In addition, developmental delay (9%), hemiplegia (2%), lens dislocation (2%), and hyperreflexia (1%) were reported. Reported median age of onset of the disease was the first day of life; the median age at diagnosis was 4.5 months. The median time to diagnosis (diagnostic delay) was 89 days. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25764214" 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="#14" class="mim-tip-reference" title="Mayr, S. J., Sass, J. O., Vry, J., Kirschner, J., Mader, I., Hovener, J. B., Reiss, J., Santamaria-Araujo, J. A., Schwarz, G., Grunert, S. C. &lt;strong&gt;A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.&lt;/strong&gt; J. Inherit. Metab. Dis. 41: 187-196, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29368224/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29368224&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10545-018-0138-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29368224">Mayr et al. (2018)</a> reported a patient who had typical development until 7 months of age when he developed viral meningitis and subsequently became hypotonic. At 4 years and 8 months of age he could stand and walk 2 steps with a dystonic gait. He had good language comprehension and did not have seizures. Brain MRI showed increased signal intensity in the ventral globus pallidus and lesions at the frontoparietal gray white matter junction. The patient had increased urine xanthine, hypoxanthine, and S-sulfocysteine, but also had some urothione (a Moco degradation product). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29368224" 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="#9" class="mim-tip-reference" title="Johnson, J. L., Rajagopalan, K. V. &lt;strong&gt;Structural and metabolic relationship between the molybdenum cofactor and urothione.&lt;/strong&gt; Proc. Nat. Acad. Sci. 79: 6856-6860, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6960353/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6960353&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.79.22.6856&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6960353">Johnson and Rajagopalan (1982)</a> showed that urothione, a sulfur-containing pterin, is the normal metabolic degradation product of the molybdenum cofactor that is deficient in this disorder. <a href="#23" class="mim-tip-reference" title="Roesel, R. A., Bowyer, F., Blankenship, P. R., Hommes, F. A. &lt;strong&gt;Combined xanthine and sulphite oxidase defect due to a deficiency of molybdenum cofactor.&lt;/strong&gt; J. Inherit. Metab. Dis. 9: 343-347, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3104671/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3104671&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01800483&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3104671">Roesel et al. (1986)</a> found no detectable urinary urothione in a patient with combined xanthine and sulfite oxidase deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6960353+3104671" 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>From studies of cocultured fibroblasts from affected individuals, <a href="#11" class="mim-tip-reference" title="Johnson, J. L., Wuebbens, M. M., Mandell, R., Shih, V. E. &lt;strong&gt;Molybdenum cofactor biosynthesis in humans: identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor.&lt;/strong&gt; J. Clin. Invest. 83: 897-903, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2522104/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2522104&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI113974&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2522104">Johnson et al. (1989)</a> identified 2 complementation groups, A and B. Coculture of group A and group B cells, without heterokaryon formation, led to the appearance of active sulfite oxidase. Use of conditioned media indicated that a relatively stable form of diffusible precursor produced by group B cells could be used to repair sulfite oxidase in group A recipient cells. Although the extremely low level of precursor produced by group B cells precluded its direct characterization, studies with a heterologous in vitro reconstitution system suggested that the precursor that accumulates in group B cells is the same as a molybdopterin precursor identified in a molybdopterin mutant of Neurospora crassa, and that a converting enzyme is present in group A cells which catalyzes an activation reaction analogous to that of a converting enzyme identified in a molybdopterin mutant of E. coli. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2522104" 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="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p>The transmission pattern of molybdenum cofactor deficiency is consistent with autosomal recessive inheritance (summary by <a href="#22" class="mim-tip-reference" title="Reiss, J. &lt;strong&gt;Genetics of molybdenum cofactor deficiency.&lt;/strong&gt; Hum. Genet. 106: 157-163, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10746556/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10746556&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390051023&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10746556">Reiss, 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10746556" 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="diagnosis" class="mim-anchor"></a>
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<strong>Diagnosis</strong>
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<p><a href="#30" class="mim-tip-reference" title="Wadman, S. K., Cats, B. P., de Bree, P. K. &lt;strong&gt;Sulfite oxidase deficiency and the detection of urinary sulfite. (Letter)&lt;/strong&gt; Europ. J. Pediat. 141: 62-63, 1983."None>Wadman et al. (1983)</a> called attention to a very simple screening test for urinary sulfite, which was originally developed for the semiquantitative determination of sulfite in wine and fruit juices and is available as a 'strip test.' <a href="#1" class="mim-tip-reference" title="Aukett, A., Bennett, M. J., Hosking, G. P. &lt;strong&gt;Molybdenum cofactor deficiency: an easily missed inborn error of metabolism.&lt;/strong&gt; Dev. Med. Child Neurol. 30: 531-535, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3169394/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3169394&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1469-8749.1988.tb04781.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3169394">Aukett et al. (1988)</a> described a patient presenting with seizures at age 4 weeks in whom the stick sulfite test, by 2 techniques, was negative. They suggested that low serum urate may be a better pointer to the diagnosis than the sulfite test. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3169394" 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="#4" class="mim-tip-reference" title="Coskun, T., Yetuk, M., Yurdakok, M., Tekinalp, G. &lt;strong&gt;Blood uric acid as a pointer to the diagnosis of molybdenum cofactor deficiency. (Letter)&lt;/strong&gt; Acta Paediat. 87: 714-715, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9686674/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9686674&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1080/080352598750014229&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9686674">Coskun et al. (1998)</a> presented a case of MOCOD and stressed the value of serum uric acid concentration in reaching the diagnosis. A very low serum uric acid level reflects the deficiency of xanthine dehydrogenase, one of the enzymes whose function is affected in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9686674" 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><strong><em>Prenatal Diagnosis</em></strong></p><p>
<a href="#7" class="mim-tip-reference" title="Gray, R. G. F., Green, A., Basu, S. N., Constantine, G., Condie, R. G., Dorche, C., Vianey-Liaud, C., Desjacques, P. &lt;strong&gt;Antenatal diagnosis of molybdenum cofactor deficiency.&lt;/strong&gt; Am. J. Obstet. Gynec. 163: 1203-1204, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2220930/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2220930&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9378(90)90691-y&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2220930">Gray et al. (1990)</a> described prenatal diagnosis by demonstrating sulfite oxidase deficiency in uncultured chorionic villus material. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2220930" 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="Reiss, J., Christensen, E., Dorche, C. &lt;strong&gt;Molybdenum cofactor deficiency: first prenatal genetic analysis.&lt;/strong&gt; Prenatal Diag. 19: 386-388, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10327149/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10327149&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1097-0223(199904)19:4&lt;386::aid-pd550&gt;3.0.co;2-#&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10327149">Reiss et al. (1999)</a> pointed out that since 1983 the prenatal diagnosis of molybdenum cofactor deficiency had been made by measurement of sulfite oxidase activity, but no enzymatic carrier diagnosis was possible. With the cloning of the MOCS1 gene, it was possible for <a href="#17" class="mim-tip-reference" title="Reiss, J., Christensen, E., Dorche, C. &lt;strong&gt;Molybdenum cofactor deficiency: first prenatal genetic analysis.&lt;/strong&gt; Prenatal Diag. 19: 386-388, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10327149/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10327149&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1097-0223(199904)19:4&lt;386::aid-pd550&gt;3.0.co;2-#&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10327149">Reiss et al. (1999)</a> to perform enzymatic and molecular genetic analysis in parallel after chorionic villus sampling in a Danish family. The sulfite oxidase activity in uncultured CVS material was found to be normal. A MOCS1 splice site mutation (<a href="/entry/603707#0004">603707.0004</a>), found to be homozygous in the proband, was found to be heterozygous in cultured chorionic cells. This confirmed that the fetus was not affected, since heterozygous carriers of the molybdenum cofactor deficiency do not display any symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10327149" 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="clinicalManagement" class="mim-anchor"></a>
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<strong>Clinical Management</strong>
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<p><a href="#25" class="mim-tip-reference" title="Schwahn, B. C., van Spronsen, F., Misko, A., Pavaine, J., Holmes, V., Spiegel, R., Schwarz, G., Wong, F., Horman, A., Pitt, J., Sass, J. O., Lubout, C. &lt;strong&gt;Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.&lt;/strong&gt; J. Inherit. Metab. Dis. 47: 598-623, 2024.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/38627985/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;38627985&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/jimd.12730&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="38627985">Schwahn et al. (2024)</a> reported consensus guidelines for evaluation and management of individuals with molybdenum cofactor deficiency as well as other sulfite intoxication disorders. Cyclic pyranopterin monophosphate (cPMP) administered daily by intravenous infusion is available for patients with MoCD type A, caused by a mutation in the MOCS1 gene. Very early initiation of therapy, in the first hours of life or ideally prenatally, is required, and the complications of indwelling central lines are manifest. There are significant improvements in outcome, but even very early postnatal treatment has been associated with some neurologic manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38627985" 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>
<div class="mim-changed mim-change"><p><a href="#24" class="mim-tip-reference" title="Schwahn, B. C., Hart, C., Smith, L. A., Hart, A., Fairbanks, L., Arenas-Hernandez, M., Turner, C., Horman, A., Rust, S., Santamaria-Araujo, J. A., Mayr, S. J., Schwarz, G., Sharrard, M. &lt;strong&gt;cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant.&lt;/strong&gt; Molec. Genet. Metab. 143: 108598, 2024.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/39488078/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;39488078&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2024.108598&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="39488078">Schwahn et al. (2024)</a> reported clinical features and treatment in a patient with molybdenum cofactor deficiency. The patient presented shortly after birth with lactic acidosis and hypoglycemia and was found to have absence of L-cystine on plasma amino acids. Follow-up biochemical testing demonstrated elevated urine S-sulfocysteine, xanthine, and hypoxanthine, and low urate. He was initiated on recombinant cyclic pyranopterin monophosphate (cPMP), resulting in improvement of biochemical parameters and clinical symptoms. The recombinant cPMP was changed to fosdenopterin (synthetic cPMP) when he was 29 months of age. At age 5 years and 11 months, he had mild to moderate learning disabilities, with impairments in language and attention. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39488078" 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></div>
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<a id="mapping" class="mim-anchor"></a>
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<p>By use of homozygosity mapping in 2 unrelated consanguineous kindreds of Israeli Arab origin, <a href="#27" class="mim-tip-reference" title="Shalata, A., Mandel, H., Reiss, J., Szargel, R., Cohen-Akenine, A., Dorche, C., Zabot, M.-T., Van Gennip, A., Abeling, N., Berant, M., Cohen, N. &lt;strong&gt;Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.&lt;/strong&gt; Am. J. Hum. Genet. 63: 148-154, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9634514/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9634514&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301916&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9634514">Shalata et al. (1998)</a> demonstrated linkage of MOCODA to an 8-cM region on chromosome 6p21.3, between markers D6S1641 and D6S1672. Linkage analysis generated the highest combined lod score, 3.6, at a recombination fraction of 0.0, with marker D6S1575. In 1 extensive kindred, 11 homozygotes in 9 sibships related as cousins were reported. The first affected member of this family had been reported by <a href="#29" class="mim-tip-reference" title="Van Gennip, A. H., Mandel, H., Stroomer, L. E., van Cruchten, A. G. &lt;strong&gt;Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency.&lt;/strong&gt; Adv. Exp. Med. Biol. 370: 375-378, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7660932/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7660932&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/978-1-4615-2584-4_81&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7660932">Van Gennip et al. (1994)</a>. In a second kindred, 2 sibs were homozygous. An immediate benefit of the mapping effort was the ability to perform prenatal diagnosis and carrier detection by use of microsatellite markers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7660932+9634514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>In 2 unrelated patients with molybdenum cofactor deficiency type A, <a href="#19" class="mim-tip-reference" title="Reiss, J., Cohen, N., Dorche, C., Mandel, H., Mendel, R. R., Stallmeyer, B., Zabot, M.-T., Dierks, T. &lt;strong&gt;Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.&lt;/strong&gt; Nature Genet. 20: 51-53, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9731530/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9731530&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/1706&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9731530">Reiss et al. (1998)</a> identified 2 different homozygous truncating mutations in the MOCS1 gene (<a href="/entry/603707#0001">603707.0001</a> and <a href="/entry/603707#0002">603707.0002</a>); one mutation occurred in the MOCS1A transcript and the other occurred in the MOCS1B transcript. These findings indicated the existence of a eukaryotic mRNA which, as a single and uniform transcript, guides the synthesis of 2 different enzymatic polypeptides with disease-causing potential. Thus the MOCS1 gene is bicistronic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9731530" 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 initial cohort of 24 patients with molybdenum cofactor deficiency, <a href="#18" class="mim-tip-reference" title="Reiss, J., Christensen, E., Kurlemann, G., Zabot, M.-T., Dorche, C. &lt;strong&gt;Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.&lt;/strong&gt; Hum. Genet. 103: 639-644, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9921896/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9921896&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050884&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9921896">Reiss et al. (1998)</a> identified 13 different mutations on 34 of the 48 chromosomes, giving a mutation detection rate of 70%. Five mutations were observed in more than 1 patient and together accounted for two-thirds of detected mutations. All patients with identified mutations were either homozygous or compound heterozygous for mutations in either of the 2 open reading frames corresponding to MOCS1A and MOCS1B, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9921896" 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="#14" class="mim-tip-reference" title="Mayr, S. J., Sass, J. O., Vry, J., Kirschner, J., Mader, I., Hovener, J. B., Reiss, J., Santamaria-Araujo, J. A., Schwarz, G., Grunert, S. C. &lt;strong&gt;A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.&lt;/strong&gt; J. Inherit. Metab. Dis. 41: 187-196, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29368224/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29368224&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10545-018-0138-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29368224">Mayr et al. (2018)</a> identified homozygosity for a 1-bp deletion in the MOCS1 gene (c.1338delG; <a href="/entry/603707#0006">603707.0006</a>) in an Afghan patient, born to consanguineous parents, with a mild form of MOCODA. The mutation was predicted to result in a premature termination at residue 477. Sulfite oxidase activity in patient fibroblasts was below the limit of quantitation. Expression of MOCS1 with the c.1338delG mutation in HEK293 cells resulted in 2 proteins, a 50-kD protein consistent with the MOCS1AB truncated protein and a smaller 25-kD protein. The smaller protein was shown to exhibit MOCS1B activity that could fully complement MoaC activity. <a href="#14" class="mim-tip-reference" title="Mayr, S. J., Sass, J. O., Vry, J., Kirschner, J., Mader, I., Hovener, J. B., Reiss, J., Santamaria-Araujo, J. A., Schwarz, G., Grunert, S. C. &lt;strong&gt;A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.&lt;/strong&gt; J. Inherit. Metab. Dis. 41: 187-196, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29368224/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29368224&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10545-018-0138-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29368224">Mayr et al. (2018)</a> concluded that only the MOCS1B fragment of the MOCS1AB fusion protein was required for in vivo activity, and the residual enzyme activity afforded by the MOCS1B fragment in this patient provided sufficient activity to permit a mild form of MOCODA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29368224" 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>
<div class="mim-changed mim-change"><p>In a patient with neonatal onset of MOCODA, <a href="#24" class="mim-tip-reference" title="Schwahn, B. C., Hart, C., Smith, L. A., Hart, A., Fairbanks, L., Arenas-Hernandez, M., Turner, C., Horman, A., Rust, S., Santamaria-Araujo, J. A., Mayr, S. J., Schwarz, G., Sharrard, M. &lt;strong&gt;cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant.&lt;/strong&gt; Molec. Genet. Metab. 143: 108598, 2024.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/39488078/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;39488078&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2024.108598&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="39488078">Schwahn et al. (2024)</a> identified compound heterozygous mutations in the MOCS1 gene: a nonsense mutation (R343X; <a href="/entry/603707#0007">603707.0007</a>) in exon 8 and a splice site mutation (c.221-2A-G; <a href="/entry/603707#0008">603707.0008</a>) in intron 1. mRNA sequencing in patient fibroblasts demonstrated only the full-length transcript, and not a smaller transcript missing exon 2, indicating that the transcript arising from the splice site mutation was degraded. Sulfite oxidase activity and sulfite oxidase protein were absent in patient fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39488078" 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></div>
<p><strong><em>Reviews</em></strong>
</p>
<p><a href="#22" class="mim-tip-reference" title="Reiss, J. &lt;strong&gt;Genetics of molybdenum cofactor deficiency.&lt;/strong&gt; Hum. Genet. 106: 157-163, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10746556/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10746556&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390051023&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10746556">Reiss (2000)</a> reviewed the genetics of molybdenum cofactor deficiency. Both MOCS1 and MOCS2 have an unusual bicistronic architecture, have identical very low expression profiles, and show extremely conserved C-terminal ends in their 5-prime open reading frames. MOCS1 mutations are responsible for two-thirds of cases. <a href="#22" class="mim-tip-reference" title="Reiss, J. &lt;strong&gt;Genetics of molybdenum cofactor deficiency.&lt;/strong&gt; Hum. Genet. 106: 157-163, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10746556/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10746556&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390051023&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10746556">Reiss (2000)</a> pointed out that all described MOCS1 and MOCS2 mutations affect one or several highly conserved motifs. No missense mutations of a less conserved residue were identified. This mirrors the absence of mild or partial forms of MoCo deficiency and supports the hypothesis of a qualitative 'yes or no' mechanism rather than quantitative kinetics for MoCo function, i.e., this function is either completely abolished or sufficient for a normal phenotype. The minimal expression of the MOCS genes concurs with this theory and would predict a low level of transfected or expressing cells that would be adequate for somatic gene therapy. Furthermore, precursor-producing cells seem to be capable of feeding their precursor-deficient neighbor cells (<a href="#11" class="mim-tip-reference" title="Johnson, J. L., Wuebbens, M. M., Mandell, R., Shih, V. E. &lt;strong&gt;Molybdenum cofactor biosynthesis in humans: identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor.&lt;/strong&gt; J. Clin. Invest. 83: 897-903, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2522104/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2522104&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI113974&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2522104">Johnson et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10746556+2522104" 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="#20" class="mim-tip-reference" title="Reiss, J., Johnson, J. L. &lt;strong&gt;Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.&lt;/strong&gt; Hum. Mutat. 21: 569-576, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12754701/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12754701&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.10223&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12754701">Reiss and Johnson (2003)</a> collected a total of 32 different disease-causing mutations in the MOCS1, MOCS2, or GPHN genes, including several common to more than 1 family, that had been identified in molybdenum cofactor-deficient patients and their relatives. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12754701" 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="nomenclature" class="mim-anchor"></a>
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<p>The mutations of MOCS1 causing molybdenum cofactor deficiency occur in either the MOCS1A or MOCS1B isoforms, and similarly the mutations in MOCS2 can occur in either the MOCS2A or MOSC2B isoforms. The form of molybdenum cofactor deficiency caused by mutation in MOCS1 is called here complementation group A (not type A); molybdenum cofactor deficiency due to mutation in MOCS2 is referred to as complementation group B; and molybdenum cofactor deficiency due to mutation in the GPHN gene is referred to as complementation group C.</p>
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<p><a href="#13" class="mim-tip-reference" title="Lee, H.-J., Adham, I. M., Schwarz, G., Kneussel, M., Sass, J. O., Engel, W., Reiss, J. &lt;strong&gt;Molybdenum cofactor-deficient mice resemble the phenotype of human patients.&lt;/strong&gt; Hum. Molec. Genet. 11: 3309-3317, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12471057/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12471057&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/11.26.3309&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12471057">Lee et al. (2002)</a> constructed a transgenic mouse model of molybdenum cofactor deficiency in which the MOCS1 gene was disrupted by homologous recombination with a targeting vector. As in humans, heterozygous mice displayed no symptoms, but homozygous animals died between days 1 and 11 after birth. Biochemical analysis of these animals showed that molybdopterin and active cofactor were undetectable. The animals did not possess any sulfite oxidase or xanthine dehydrogenase activity. No organ abnormalities were observed and the synaptic localization of inhibitory receptors, which was found to be disturbed in molybdenum cofactor-deficient mice with a Geph mutation, appeared normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12471057" 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="#26" class="mim-tip-reference" title="Schwarz, G., Santamaria-Araujo, J. A., Wolf, S., Lee, H.-J., Adham, I. M., Grone, H.-J., Schwegler, H., Sass, J. O., Otte, T., Hanzelmann, P., Mendel, R. R., Engel, W., Reiss, J. &lt;strong&gt;Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli.&lt;/strong&gt; Hum. Molec. Genet. 13: 1249-1255, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15115759/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15115759&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddh136&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15115759">Schwarz et al. (2004)</a> described the isolation of a pterin intermediate from bacteria that was successfully used for the therapy of molybdenum cofactor deficiency in a mouse model. An intermediate of this pathway, designated 'precursor Z,' is more stable than the cofactor itself and has an identical structure in all phyla. <a href="#26" class="mim-tip-reference" title="Schwarz, G., Santamaria-Araujo, J. A., Wolf, S., Lee, H.-J., Adham, I. M., Grone, H.-J., Schwegler, H., Sass, J. O., Otte, T., Hanzelmann, P., Mendel, R. R., Engel, W., Reiss, J. &lt;strong&gt;Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli.&lt;/strong&gt; Hum. Molec. Genet. 13: 1249-1255, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15115759/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15115759&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddh136&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15115759">Schwarz et al. (2004)</a> overproduced precursor Z in E. coli and injected purified precursor Z-deficient knockout mice, which displayed a phenotype resembling the human deficiency state. Precursor Z-substituted mice reached adulthood and fertility. Biochemical analyses further suggested that the described treatment may lead to the alleviation of most symptoms associated with human molybdenum cofactor deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15115759" 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>The mouse model of MoCo deficiency type A (<a href="#13" class="mim-tip-reference" title="Lee, H.-J., Adham, I. M., Schwarz, G., Kneussel, M., Sass, J. O., Engel, W., Reiss, J. &lt;strong&gt;Molybdenum cofactor-deficient mice resemble the phenotype of human patients.&lt;/strong&gt; Hum. Molec. Genet. 11: 3309-3317, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12471057/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12471057&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/11.26.3309&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12471057">Lee et al., 2002</a>; <a href="#26" class="mim-tip-reference" title="Schwarz, G., Santamaria-Araujo, J. A., Wolf, S., Lee, H.-J., Adham, I. M., Grone, H.-J., Schwegler, H., Sass, J. O., Otte, T., Hanzelmann, P., Mendel, R. R., Engel, W., Reiss, J. &lt;strong&gt;Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli.&lt;/strong&gt; Hum. Molec. Genet. 13: 1249-1255, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15115759/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15115759&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddh136&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15115759">Schwarz et al., 2004</a>) showed the biochemical characteristics of sulfite and xanthine intoxication and a failure to survive more than 2 weeks after birth. <a href="#12" class="mim-tip-reference" title="Kugler, S., Hahnewald, R., Garrido, M., Reiss, J. &lt;strong&gt;Long-term rescue of a lethal inherited disease by adeno-associated virus-mediated gene transfer in a mouse model of molybdenum-cofactor deficiency.&lt;/strong&gt; Am. J. Hum. Genet. 80: 291-297, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17236133/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17236133&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17236133[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/511281&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17236133">Kugler et al. (2007)</a> constructed an expression cassette for the gene MOCS1 which, by alternative splicing, facilitates the expression of the proteins MOCS1A and MOCS1B, both of which are necessary for the formation of a first intermediate, cyclic pyranopterin monophosphate (cPMP), within the biosynthetic pathway leading to active MoCo. A recombinant adeno-associated virus (AAV) vector was used to express the artificial MOCS1 minigene in an attempt to cure the lethal MOCS1-deficient phenotype. The vector was used to transduce Mocs1-deficient mice at both 1 and 4 days after birth or, after a pretreatment with purified cPMP, at 40 days after birth. They found that all deficient animals injected with control AAV-enhanced green fluorescent protein vector died approximately 8 days after birth or after withdrawal of cPMP supplementation, whereas AAV-MOCS1-transduced animals showed significantly increased longevity. A single intrahepatic injection of AAV-MOCS1 resulted in fertile adult animals without any pathologic phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15115759+17236133+12471057" 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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<strong>See Also:</strong>
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<a href="#Beemer1980" class="mim-tip-reference" title="Beemer, F. A., Delleman, J. W. &lt;strong&gt;Combined deficiency of xanthine oxidase and sulfite oxidase: ophthalmological findings in a 3-week-old girl.&lt;/strong&gt; Metab. Pediat. Ophthal. 4: 49-52, 1980.">Beemer and Delleman (1980)</a>
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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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Aukett, A., Bennett, M. J., Hosking, G. P.
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[<a href="https://doi.org/10.1111/j.1469-8749.1988.tb04781.x" target="_blank">Full Text</a>]
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<a id="Beemer1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Beemer, F. A., Delleman, J. W.
<strong>Combined deficiency of xanthine oxidase and sulfite oxidase: ophthalmological findings in a 3-week-old girl.</strong>
Metab. Pediat. Ophthal. 4: 49-52, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6969337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6969337</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6969337" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="Beemer1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Beemer, F. A.
<strong>Personal Communication.</strong>
Utrecht, The Netherlands 1/15/1981.
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Coskun, T., Yetuk, M., Yurdakok, M., Tekinalp, G.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9686674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9686674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9686674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1080/080352598750014229" target="_blank">Full Text</a>]
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<a id="Duran1978" class="mim-anchor"></a>
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Duran, M., Beemer, F. A., v. d. Heiden, C., Korteland, J., de Bree, P. K., Brink, M., Wadman, S. K.
<strong>Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport?</strong>
J. Inherit. Metab. Dis. 1: 175-178, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/117254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">117254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=117254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01805591" target="_blank">Full Text</a>]
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<a id="Endres1988" class="mim-anchor"></a>
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<p class="mim-text-font">
Endres, W., Shin, Y. S., Gunther, R., Ibel, H., Duran, M., Wadman, S. K.
<strong>Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency.</strong>
Europ. J. Pediat. 148: 246-249, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3215199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3215199</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3215199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00441412" target="_blank">Full Text</a>]
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<a id="Gray1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gray, R. G. F., Green, A., Basu, S. N., Constantine, G., Condie, R. G., Dorche, C., Vianey-Liaud, C., Desjacques, P.
<strong>Antenatal diagnosis of molybdenum cofactor deficiency.</strong>
Am. J. Obstet. Gynec. 163: 1203-1204, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2220930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2220930</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2220930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9378(90)90691-y" target="_blank">Full Text</a>]
</p>
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<a id="Johnson2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Johnson, J. L., Duran, M.
<strong>Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong>
New York: McGraw-Hill (pub.) 2001. Pp. 3163-3177.
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Johnson, J. L., Rajagopalan, K. V.
<strong>Structural and metabolic relationship between the molybdenum cofactor and urothione.</strong>
Proc. Nat. Acad. Sci. 79: 6856-6860, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6960353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6960353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6960353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.79.22.6856" target="_blank">Full Text</a>]
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<a id="Johnson1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Johnson, J. L., Waud, W. R., Rajagopalan, K. V., Duran, M., Beemer, F. A., Wadman, S. K.
<strong>Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6997882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6997882</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6997882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.77.6.3715" target="_blank">Full Text</a>]
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<a id="Johnson1989" class="mim-anchor"></a>
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Johnson, J. L., Wuebbens, M. M., Mandell, R., Shih, V. E.
<strong>Molybdenum cofactor biosynthesis in humans: identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor.</strong>
J. Clin. Invest. 83: 897-903, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2522104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2522104</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2522104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI113974" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
<a id="Kugler2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kugler, S., Hahnewald, R., Garrido, M., Reiss, J.
<strong>Long-term rescue of a lethal inherited disease by adeno-associated virus-mediated gene transfer in a mouse model of molybdenum-cofactor deficiency.</strong>
Am. J. Hum. Genet. 80: 291-297, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236133</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236133[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=17236133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/511281" target="_blank">Full Text</a>]
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<a id="Lee2002" class="mim-anchor"></a>
<div class="">
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Lee, H.-J., Adham, I. M., Schwarz, G., Kneussel, M., Sass, J. O., Engel, W., Reiss, J.
<strong>Molybdenum cofactor-deficient mice resemble the phenotype of human patients.</strong>
Hum. Molec. Genet. 11: 3309-3317, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12471057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12471057</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12471057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/11.26.3309" target="_blank">Full Text</a>]
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<a id="Mayr2018" class="mim-anchor"></a>
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Mayr, S. J., Sass, J. O., Vry, J., Kirschner, J., Mader, I., Hovener, J. B., Reiss, J., Santamaria-Araujo, J. A., Schwarz, G., Grunert, S. C.
<strong>A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.</strong>
J. Inherit. Metab. Dis. 41: 187-196, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29368224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29368224</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29368224" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s10545-018-0138-7" target="_blank">Full Text</a>]
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<a id="Mechler2015" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mechler, K., Mountford, W. K., Hoffmann, G. F., Ries, M.
<strong>Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency.</strong>
Genet. Med. 17: 965-970, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25764214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25764214</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25764214" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/gim.2015.12" target="_blank">Full Text</a>]
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<a id="Parini1997" class="mim-anchor"></a>
<div class="">
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Parini, R., Briscioli, V., Caruso, U., Dorche, C., Fortuna, R., Minniti, G., Selicorni, A., Vismara, E., Mancini, G.
<strong>Spherophakia associated with molybdenum cofactor deficiency.</strong>
Am. J. Med. Genet. 73: 272-275, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9415683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9415683</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9415683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19971219)73:3&lt;272::aid-ajmg8&gt;3.0.co;2-u" target="_blank">Full Text</a>]
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<a id="Reiss1999" class="mim-anchor"></a>
<div class="">
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Reiss, J., Christensen, E., Dorche, C.
<strong>Molybdenum cofactor deficiency: first prenatal genetic analysis.</strong>
Prenatal Diag. 19: 386-388, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10327149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10327149</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10327149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1097-0223(199904)19:4&lt;386::aid-pd550&gt;3.0.co;2-#" target="_blank">Full Text</a>]
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<a id="Reiss1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reiss, J., Christensen, E., Kurlemann, G., Zabot, M.-T., Dorche, C.
<strong>Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.</strong>
Hum. Genet. 103: 639-644, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9921896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9921896</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9921896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s004390050884" target="_blank">Full Text</a>]
</p>
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<a id="Reiss1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reiss, J., Cohen, N., Dorche, C., Mandel, H., Mendel, R. R., Stallmeyer, B., Zabot, M.-T., Dierks, T.
<strong>Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.</strong>
Nature Genet. 20: 51-53, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731530</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9731530" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/1706" target="_blank">Full Text</a>]
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<a id="Reiss2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reiss, J., Johnson, J. L.
<strong>Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.</strong>
Hum. Mutat. 21: 569-576, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12754701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12754701</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12754701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.10223" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
<a id="Reiss2011" class="mim-anchor"></a>
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<p class="mim-text-font">
Reiss, J., Lenz, U., Aquaviva-Bourdain, C., Joriot-Chekaf, S., Mention-Mulliez, K., Holder-Espinasse, M.
<strong>A GPHN point mutation leading to molybdenum cofactor deficiency. (Letter)</strong>
Clin. Genet. 80: 598-599, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22040219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22040219</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22040219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2011.01709.x" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
<a id="Reiss2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reiss, J.
<strong>Genetics of molybdenum cofactor deficiency.</strong>
Hum. Genet. 106: 157-163, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10746556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10746556</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10746556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s004390051023" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
<a id="Roesel1986" class="mim-anchor"></a>
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Roesel, R. A., Bowyer, F., Blankenship, P. R., Hommes, F. A.
<strong>Combined xanthine and sulphite oxidase defect due to a deficiency of molybdenum cofactor.</strong>
J. Inherit. Metab. Dis. 9: 343-347, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3104671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3104671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3104671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01800483" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
<a id="Schwahn2024" class="mim-anchor"></a>
<div class="mim-changed mim-change">
<p class="mim-text-font">
Schwahn, B. C., Hart, C., Smith, L. A., Hart, A., Fairbanks, L., Arenas-Hernandez, M., Turner, C., Horman, A., Rust, S., Santamaria-Araujo, J. A., Mayr, S. J., Schwarz, G., Sharrard, M.
<strong>cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant.</strong>
Molec. Genet. Metab. 143: 108598, 2024.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39488078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39488078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39488078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ymgme.2024.108598" target="_blank">Full Text</a>]
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<a id="25" class="mim-anchor"></a>
<a id="Schwahn2024" class="mim-anchor"></a>
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Schwahn, B. C., van Spronsen, F., Misko, A., Pavaine, J., Holmes, V., Spiegel, R., Schwarz, G., Wong, F., Horman, A., Pitt, J., Sass, J. O., Lubout, C.
<strong>Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.</strong>
J. Inherit. Metab. Dis. 47: 598-623, 2024.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38627985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38627985</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38627985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/jimd.12730" target="_blank">Full Text</a>]
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<a id="26" class="mim-anchor"></a>
<a id="Schwarz2004" class="mim-anchor"></a>
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Schwarz, G., Santamaria-Araujo, J. A., Wolf, S., Lee, H.-J., Adham, I. M., Grone, H.-J., Schwegler, H., Sass, J. O., Otte, T., Hanzelmann, P., Mendel, R. R., Engel, W., Reiss, J.
<strong>Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli.</strong>
Hum. Molec. Genet. 13: 1249-1255, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15115759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15115759</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15115759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddh136" target="_blank">Full Text</a>]
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<a id="27" class="mim-anchor"></a>
<a id="Shalata1998" class="mim-anchor"></a>
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Shalata, A., Mandel, H., Reiss, J., Szargel, R., Cohen-Akenine, A., Dorche, C., Zabot, M.-T., Van Gennip, A., Abeling, N., Berant, M., Cohen, N.
<strong>Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.</strong>
Am. J. Hum. Genet. 63: 148-154, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9634514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9634514</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9634514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/301916" target="_blank">Full Text</a>]
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<a id="Slot1993" class="mim-anchor"></a>
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Slot, H. M. J., Overweg-Plandsoen, W. C. G., Bakker, H. D., Abeling, N. G. G. M., Tamminga, P., Barth, P. G., Van Gennip, A. H.
<strong>Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions.</strong>
Neuropediatrics 24: 139-142, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8355818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8355818</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8355818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1055/s-2008-1071531" target="_blank">Full Text</a>]
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<a id="Van Gennip1994" class="mim-anchor"></a>
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Van Gennip, A. H., Mandel, H., Stroomer, L. E., van Cruchten, A. G.
<strong>Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency.</strong>
Adv. Exp. Med. Biol. 370: 375-378, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7660932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7660932</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7660932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/978-1-4615-2584-4_81" target="_blank">Full Text</a>]
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<a id="Wadman1983" class="mim-anchor"></a>
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<p class="mim-text-font">
Wadman, S. K., Cats, B. P., de Bree, P. K.
<strong>Sulfite oxidase deficiency and the detection of urinary sulfite. (Letter)</strong>
Europ. J. Pediat. 141: 62-63, 1983.
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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Hilary J. Vernon - updated : 12/09/2024
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<span class="mim-text-font">
Ada Hamosh - updated : 07/09/2024<br>Hilary J. Vernon - updated : 05/06/2024<br>Ada Hamosh - updated : 1/28/2016<br>Cassandra L. Kniffin - updated : 10/30/2013<br>Victor A. McKusick - updated : 1/19/2007<br>George E. Tiller - updated : 9/7/2006<br>Marla J. F. O'Neill - updated : 11/16/2005<br>George E. Tiller - updated : 9/10/2004<br>Victor A. McKusick - updated : 7/11/2003<br>Sonja A. Rasmussen - updated : 12/7/2001<br>Victor A. McKusick - updated : 1/23/2001<br>Victor A. McKusick - updated : 3/8/2000<br>Rebekah S. Rasooly - updated : 6/22/1999<br>Victor A. McKusick - updated : 6/9/1999<br>Victor A. McKusick - updated : 4/8/1999<br>Victor A. McKusick - updated : 3/22/1999<br>Victor A. McKusick - updated : 1/21/1999<br>Victor A. McKusick - updated : 10/13/1998<br>Victor A. McKusick - updated : 8/28/1998<br>Victor A. McKusick - updated : 7/20/1998
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Creation Date:
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Victor A. McKusick : 6/4/1986
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carol : 12/09/2024
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alopez : 08/05/2024<br>carol : 07/10/2024<br>alopez : 07/09/2024<br>carol : 05/14/2024<br>carol : 05/06/2024<br>carol : 05/06/2024<br>carol : 07/09/2016<br>alopez : 1/28/2016<br>carol : 11/5/2013<br>carol : 11/4/2013<br>ckniffin : 10/30/2013<br>tpirozzi : 6/27/2013<br>mgross : 2/3/2009<br>alopez : 1/23/2007<br>terry : 1/19/2007<br>alopez : 9/7/2006<br>wwang : 11/18/2005<br>terry : 11/16/2005<br>terry : 4/6/2005<br>tkritzer : 9/20/2004<br>tkritzer : 9/10/2004<br>cwells : 7/15/2003<br>terry : 7/11/2003<br>carol : 12/13/2001<br>carol : 12/13/2001<br>mcapotos : 12/7/2001<br>mgross : 1/24/2001<br>terry : 1/23/2001<br>mcapotos : 4/6/2000<br>terry : 3/8/2000<br>terry : 3/7/2000<br>alopez : 6/22/1999<br>jlewis : 6/17/1999<br>terry : 6/9/1999<br>carol : 4/8/1999<br>terry : 3/22/1999<br>carol : 2/5/1999<br>terry : 2/1/1999<br>terry : 1/21/1999<br>carol : 10/18/1998<br>terry : 10/13/1998<br>alopez : 8/31/1998<br>terry : 8/28/1998<br>carol : 7/21/1998<br>terry : 7/20/1998<br>dholmes : 12/30/1997<br>dholmes : 12/30/1997<br>alopez : 6/11/1997<br>mimman : 2/8/1996<br>davew : 8/17/1994<br>terry : 5/7/1994<br>warfield : 4/15/1994<br>carol : 9/1/1993<br>supermim : 3/17/1992<br>carol : 2/6/1991
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<span class="mim-font">
<strong>#</strong> 252150
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MOLYBDENUM COFACTOR DEFICIENCY, TYPE A; MOCODA
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<em>Alternative titles; symbols</em>
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MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A<br />
SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF
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<strong>SNOMEDCT:</strong> 1003367004; &nbsp;
<strong>ORPHA:</strong> 308386, 833, 99732; &nbsp;
<strong>DO:</strong> 0111164; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
6p21.2
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Molybdenum cofactor deficiency A
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252150
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Autosomal recessive
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3
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MOCS1
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603707
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because molybdenum cofactor deficiency type A (MOCODA) is caused by homozygous or compound heterozygous mutation in the MOCS1 gene (603707) on chromosome 6p21.</p>
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<strong>Description</strong>
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<p>Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH; 607633) and sulfite oxidase (SUOX; 606887), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). </p><p><strong><em>Genetic Heterogeneity of Molybdenum Cofactor Deficiency</em></strong></p><p>
See also MOCOD type B (MOCODB; 252160), caused by mutation in the MOCS2 gene (603708) on chromosome 5q11; and MOCOD type C (MOCODC; 615501), caused by mutation in the GPHN gene (603930) on chromosome 14q24.</p>
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<strong>Clinical Features</strong>
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<p>Duran et al. (1978) reported a female infant with a combination of sulfite oxidase deficiency (272300) and xanthine oxidase deficiency (278300). She presented at age 10 days with poor feeding, tonic-clonic seizures, EEG abnormalities, and dysmorphic features, including frontal bossing, asymmetry of the skull, and subtle medio-facial dysplasia. She also had nystagmus, enophthalmos, and dislocated lenses. Laboratory studies showed low serum uric acid, and urinary analysis showed increased excretion of xanthine, hypoxanthine, S-sulfocysteine, and taurine. At age 14 months, she was noted to have excretion of xanthine stones. At age 2 years, she had poor head control, hypertonia, no reaction to light, and essentially no psychomotor development. Xanthine oxidase activity was demonstrated to be absent in patient cells, but sulfite oxidase activity was difficult to determine. However, the excretion of sulfur-containing metabolites was consistent with decreased sulfite oxidase activity. Serum molybdenum concentration was normal. Johnson et al. (1980) reported further studies on the patient reported by Duran et al. (1978), who was bedridden and had not achieved any milestones by age 3 years. Hepatic tissue from the patient showed deficient activities of both sulfite oxidase and xanthine dehydrogenase, secondary to deficient synthesis of the molybdenum cofactor. Molybdenum was absent in the liver sample despite normal serum levels of the metal; however, the active molybdenum cofactor was not detectable in the liver. The clinical features were attributed mainly to the deficiency of sulfite oxidase; urinary xanthine stones were presumably the only manifestation of the xanthine oxidase deficiency. There was also indirect biochemical evidence of aldehyde oxidase (AOX1; 602841) deficiency. Johnson et al. (1980) concluded that the patient had a primary defect in an essential step of the biosynthesis of the active molybdenum cofactor. </p><p>Beemer (1981) identified this disorder in a second patient, a male newborn, whose parents were born in the same region of Holland as the parents of the first patient, with at least 2 links between the pedigrees. By 1983, according to Wadman et al. (1983), there were more cases of sulfite oxidase deficiency due to a defect in the molybdenum cofactor than cases of isolated sulfite oxidase deficiency. Convulsions, feeding difficulties, mental retardation, and lens dislocation occurred in both the isolated and the combined forms. In the combined form, abnormal muscle tone, myoclonic spasms, and an abnormal physiognomy had also been reported.</p><p>Endres et al. (1988) reported a newborn infant with seizures and spastic tetraparesis at the age of 1 week who excreted excessive amounts of sulfite, taurine, S-sulfocysteine and thiosulfate, characteristic of sulfite oxidase deficiency. In addition, increased renal excretion of xanthine and hypoxanthine combined with a low serum and urinary uric acid was consistent with xanthine dehydrogenase deficiency. Both deficiencies were established at the enzyme level. Attempts at treatment were unsuccessful. The patient developed a severe neurologic syndrome, brain atrophy, and lens dislocation, and died at the age of 22 months. </p><p>Slot et al. (1993) reported 2 unrelated patients with MOCOD who presented with neonatal convulsions. The parents in one case were second cousins. One infant died at the age of 10 days and was found to have severe loss of neocortical neurons, predominantly affecting the deeper layers, well-established gliosis of the white matter, and areas of cystic lysis in the white matter. In the case of the second infant, death occurred at the age of about 1 year. Postmortem examination, like clinical examination, disclosed no lens luxation. </p><p>Parini et al. (1997) described a patient with molybdenum cofactor deficiency in which lens dislocation developed late (at the age of 8 years) and was preceded by bilateral spherophakia. The authors hypothesized that the cause of spherophakia in this disorder is an abnormal relaxation of the zonular fibers, which eventually causes lens dislocation. </p><p>Patients with MOCOD have recognizable dysmorphic facial features, including long face with puffy cheeks, widely spaced eyes, elongated palpebral fissures, thick lips, long philtrum, and small nose. Some patients develop progressive microcephaly, whereas others have macrocephaly secondary to hydrocephalus. Neuropathologic findings include brain atrophy, neuronal loss, astrocytic gliosis, cystic changes in the subcortical white matter, thin corpus callosum, enlarged ventricles, and demyelination (summary by Johnson and Duran, 2001).</p><p>Mechler et al. (2015) reported a natural history of molybdenum cofactor deficiency with pooled data. Of 82 children, 70% were classified as MOCD not otherwise specified because the molecular basis was not known; 15% were MOCODA, 10% were MOCODB, and 6% were MOCODC. In this cohort, 42% were female, 45% were male, and 13% were of unknown sex. Affected sibs were present in 38%, absent in 60%, and unknown in 2%. At last follow-up, 51% were alive and 49% had died. The median survival overall was 36 months. The initial cardinal disease features at onset were seizures (72%) as well as feeding difficulties (25%) and hypotonia (11%). In addition, developmental delay (9%), hemiplegia (2%), lens dislocation (2%), and hyperreflexia (1%) were reported. Reported median age of onset of the disease was the first day of life; the median age at diagnosis was 4.5 months. The median time to diagnosis (diagnostic delay) was 89 days. </p><p>Mayr et al. (2018) reported a patient who had typical development until 7 months of age when he developed viral meningitis and subsequently became hypotonic. At 4 years and 8 months of age he could stand and walk 2 steps with a dystonic gait. He had good language comprehension and did not have seizures. Brain MRI showed increased signal intensity in the ventral globus pallidus and lesions at the frontoparietal gray white matter junction. The patient had increased urine xanthine, hypoxanthine, and S-sulfocysteine, but also had some urothione (a Moco degradation product). </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Biochemical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Johnson and Rajagopalan (1982) showed that urothione, a sulfur-containing pterin, is the normal metabolic degradation product of the molybdenum cofactor that is deficient in this disorder. Roesel et al. (1986) found no detectable urinary urothione in a patient with combined xanthine and sulfite oxidase deficiency. </p><p>From studies of cocultured fibroblasts from affected individuals, Johnson et al. (1989) identified 2 complementation groups, A and B. Coculture of group A and group B cells, without heterokaryon formation, led to the appearance of active sulfite oxidase. Use of conditioned media indicated that a relatively stable form of diffusible precursor produced by group B cells could be used to repair sulfite oxidase in group A recipient cells. Although the extremely low level of precursor produced by group B cells precluded its direct characterization, studies with a heterologous in vitro reconstitution system suggested that the precursor that accumulates in group B cells is the same as a molybdopterin precursor identified in a molybdopterin mutant of Neurospora crassa, and that a converting enzyme is present in group A cells which catalyzes an activation reaction analogous to that of a converting enzyme identified in a molybdopterin mutant of E. coli. </p>
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<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of molybdenum cofactor deficiency is consistent with autosomal recessive inheritance (summary by Reiss, 2000). </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Wadman et al. (1983) called attention to a very simple screening test for urinary sulfite, which was originally developed for the semiquantitative determination of sulfite in wine and fruit juices and is available as a 'strip test.' Aukett et al. (1988) described a patient presenting with seizures at age 4 weeks in whom the stick sulfite test, by 2 techniques, was negative. They suggested that low serum urate may be a better pointer to the diagnosis than the sulfite test. </p><p>Coskun et al. (1998) presented a case of MOCOD and stressed the value of serum uric acid concentration in reaching the diagnosis. A very low serum uric acid level reflects the deficiency of xanthine dehydrogenase, one of the enzymes whose function is affected in this disorder. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
Gray et al. (1990) described prenatal diagnosis by demonstrating sulfite oxidase deficiency in uncultured chorionic villus material. </p><p>Reiss et al. (1999) pointed out that since 1983 the prenatal diagnosis of molybdenum cofactor deficiency had been made by measurement of sulfite oxidase activity, but no enzymatic carrier diagnosis was possible. With the cloning of the MOCS1 gene, it was possible for Reiss et al. (1999) to perform enzymatic and molecular genetic analysis in parallel after chorionic villus sampling in a Danish family. The sulfite oxidase activity in uncultured CVS material was found to be normal. A MOCS1 splice site mutation (603707.0004), found to be homozygous in the proband, was found to be heterozygous in cultured chorionic cells. This confirmed that the fetus was not affected, since heterozygous carriers of the molybdenum cofactor deficiency do not display any symptoms. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Schwahn et al. (2024) reported consensus guidelines for evaluation and management of individuals with molybdenum cofactor deficiency as well as other sulfite intoxication disorders. Cyclic pyranopterin monophosphate (cPMP) administered daily by intravenous infusion is available for patients with MoCD type A, caused by a mutation in the MOCS1 gene. Very early initiation of therapy, in the first hours of life or ideally prenatally, is required, and the complications of indwelling central lines are manifest. There are significant improvements in outcome, but even very early postnatal treatment has been associated with some neurologic manifestations. </p><p>Schwahn et al. (2024) reported clinical features and treatment in a patient with molybdenum cofactor deficiency. The patient presented shortly after birth with lactic acidosis and hypoglycemia and was found to have absence of L-cystine on plasma amino acids. Follow-up biochemical testing demonstrated elevated urine S-sulfocysteine, xanthine, and hypoxanthine, and low urate. He was initiated on recombinant cyclic pyranopterin monophosphate (cPMP), resulting in improvement of biochemical parameters and clinical symptoms. The recombinant cPMP was changed to fosdenopterin (synthetic cPMP) when he was 29 months of age. At age 5 years and 11 months, he had mild to moderate learning disabilities, with impairments in language and attention. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>By use of homozygosity mapping in 2 unrelated consanguineous kindreds of Israeli Arab origin, Shalata et al. (1998) demonstrated linkage of MOCODA to an 8-cM region on chromosome 6p21.3, between markers D6S1641 and D6S1672. Linkage analysis generated the highest combined lod score, 3.6, at a recombination fraction of 0.0, with marker D6S1575. In 1 extensive kindred, 11 homozygotes in 9 sibships related as cousins were reported. The first affected member of this family had been reported by Van Gennip et al. (1994). In a second kindred, 2 sibs were homozygous. An immediate benefit of the mapping effort was the ability to perform prenatal diagnosis and carrier detection by use of microsatellite markers. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 2 unrelated patients with molybdenum cofactor deficiency type A, Reiss et al. (1998) identified 2 different homozygous truncating mutations in the MOCS1 gene (603707.0001 and 603707.0002); one mutation occurred in the MOCS1A transcript and the other occurred in the MOCS1B transcript. These findings indicated the existence of a eukaryotic mRNA which, as a single and uniform transcript, guides the synthesis of 2 different enzymatic polypeptides with disease-causing potential. Thus the MOCS1 gene is bicistronic. </p><p>In an initial cohort of 24 patients with molybdenum cofactor deficiency, Reiss et al. (1998) identified 13 different mutations on 34 of the 48 chromosomes, giving a mutation detection rate of 70%. Five mutations were observed in more than 1 patient and together accounted for two-thirds of detected mutations. All patients with identified mutations were either homozygous or compound heterozygous for mutations in either of the 2 open reading frames corresponding to MOCS1A and MOCS1B, respectively. </p><p>Mayr et al. (2018) identified homozygosity for a 1-bp deletion in the MOCS1 gene (c.1338delG; 603707.0006) in an Afghan patient, born to consanguineous parents, with a mild form of MOCODA. The mutation was predicted to result in a premature termination at residue 477. Sulfite oxidase activity in patient fibroblasts was below the limit of quantitation. Expression of MOCS1 with the c.1338delG mutation in HEK293 cells resulted in 2 proteins, a 50-kD protein consistent with the MOCS1AB truncated protein and a smaller 25-kD protein. The smaller protein was shown to exhibit MOCS1B activity that could fully complement MoaC activity. Mayr et al. (2018) concluded that only the MOCS1B fragment of the MOCS1AB fusion protein was required for in vivo activity, and the residual enzyme activity afforded by the MOCS1B fragment in this patient provided sufficient activity to permit a mild form of MOCODA. </p><p>In a patient with neonatal onset of MOCODA, Schwahn et al. (2024) identified compound heterozygous mutations in the MOCS1 gene: a nonsense mutation (R343X; 603707.0007) in exon 8 and a splice site mutation (c.221-2A-G; 603707.0008) in intron 1. mRNA sequencing in patient fibroblasts demonstrated only the full-length transcript, and not a smaller transcript missing exon 2, indicating that the transcript arising from the splice site mutation was degraded. Sulfite oxidase activity and sulfite oxidase protein were absent in patient fibroblasts. </p><p><strong><em>Reviews</em></strong></p><p>
Reiss (2000) reviewed the genetics of molybdenum cofactor deficiency. Both MOCS1 and MOCS2 have an unusual bicistronic architecture, have identical very low expression profiles, and show extremely conserved C-terminal ends in their 5-prime open reading frames. MOCS1 mutations are responsible for two-thirds of cases. Reiss (2000) pointed out that all described MOCS1 and MOCS2 mutations affect one or several highly conserved motifs. No missense mutations of a less conserved residue were identified. This mirrors the absence of mild or partial forms of MoCo deficiency and supports the hypothesis of a qualitative 'yes or no' mechanism rather than quantitative kinetics for MoCo function, i.e., this function is either completely abolished or sufficient for a normal phenotype. The minimal expression of the MOCS genes concurs with this theory and would predict a low level of transfected or expressing cells that would be adequate for somatic gene therapy. Furthermore, precursor-producing cells seem to be capable of feeding their precursor-deficient neighbor cells (Johnson et al., 1989). </p><p>Reiss and Johnson (2003) collected a total of 32 different disease-causing mutations in the MOCS1, MOCS2, or GPHN genes, including several common to more than 1 family, that had been identified in molybdenum cofactor-deficient patients and their relatives. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The mutations of MOCS1 causing molybdenum cofactor deficiency occur in either the MOCS1A or MOCS1B isoforms, and similarly the mutations in MOCS2 can occur in either the MOCS2A or MOSC2B isoforms. The form of molybdenum cofactor deficiency caused by mutation in MOCS1 is called here complementation group A (not type A); molybdenum cofactor deficiency due to mutation in MOCS2 is referred to as complementation group B; and molybdenum cofactor deficiency due to mutation in the GPHN gene is referred to as complementation group C.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Lee et al. (2002) constructed a transgenic mouse model of molybdenum cofactor deficiency in which the MOCS1 gene was disrupted by homologous recombination with a targeting vector. As in humans, heterozygous mice displayed no symptoms, but homozygous animals died between days 1 and 11 after birth. Biochemical analysis of these animals showed that molybdopterin and active cofactor were undetectable. The animals did not possess any sulfite oxidase or xanthine dehydrogenase activity. No organ abnormalities were observed and the synaptic localization of inhibitory receptors, which was found to be disturbed in molybdenum cofactor-deficient mice with a Geph mutation, appeared normal. </p><p>Schwarz et al. (2004) described the isolation of a pterin intermediate from bacteria that was successfully used for the therapy of molybdenum cofactor deficiency in a mouse model. An intermediate of this pathway, designated 'precursor Z,' is more stable than the cofactor itself and has an identical structure in all phyla. Schwarz et al. (2004) overproduced precursor Z in E. coli and injected purified precursor Z-deficient knockout mice, which displayed a phenotype resembling the human deficiency state. Precursor Z-substituted mice reached adulthood and fertility. Biochemical analyses further suggested that the described treatment may lead to the alleviation of most symptoms associated with human molybdenum cofactor deficiency. </p><p>The mouse model of MoCo deficiency type A (Lee et al., 2002; Schwarz et al., 2004) showed the biochemical characteristics of sulfite and xanthine intoxication and a failure to survive more than 2 weeks after birth. Kugler et al. (2007) constructed an expression cassette for the gene MOCS1 which, by alternative splicing, facilitates the expression of the proteins MOCS1A and MOCS1B, both of which are necessary for the formation of a first intermediate, cyclic pyranopterin monophosphate (cPMP), within the biosynthetic pathway leading to active MoCo. A recombinant adeno-associated virus (AAV) vector was used to express the artificial MOCS1 minigene in an attempt to cure the lethal MOCS1-deficient phenotype. The vector was used to transduce Mocs1-deficient mice at both 1 and 4 days after birth or, after a pretreatment with purified cPMP, at 40 days after birth. They found that all deficient animals injected with control AAV-enhanced green fluorescent protein vector died approximately 8 days after birth or after withdrawal of cPMP supplementation, whereas AAV-MOCS1-transduced animals showed significantly increased longevity. A single intrahepatic injection of AAV-MOCS1 resulted in fertile adult animals without any pathologic phenotypes. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Beemer and Delleman (1980)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
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<p class="mim-text-font">
Aukett, A., Bennett, M. J., Hosking, G. P.
<strong>Molybdenum cofactor deficiency: an easily missed inborn error of metabolism.</strong>
Dev. Med. Child Neurol. 30: 531-535, 1988.
[PubMed: 3169394]
[Full Text: https://doi.org/10.1111/j.1469-8749.1988.tb04781.x]
</p>
</li>
<li>
<p class="mim-text-font">
Beemer, F. A., Delleman, J. W.
<strong>Combined deficiency of xanthine oxidase and sulfite oxidase: ophthalmological findings in a 3-week-old girl.</strong>
Metab. Pediat. Ophthal. 4: 49-52, 1980.
[PubMed: 6969337]
</p>
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<li>
<p class="mim-text-font">
Beemer, F. A.
<strong>Personal Communication.</strong>
Utrecht, The Netherlands 1/15/1981.
</p>
</li>
<li>
<p class="mim-text-font">
Coskun, T., Yetuk, M., Yurdakok, M., Tekinalp, G.
<strong>Blood uric acid as a pointer to the diagnosis of molybdenum cofactor deficiency. (Letter)</strong>
Acta Paediat. 87: 714-715, 1998.
[PubMed: 9686674]
[Full Text: https://doi.org/10.1080/080352598750014229]
</p>
</li>
<li>
<p class="mim-text-font">
Duran, M., Beemer, F. A., v. d. Heiden, C., Korteland, J., de Bree, P. K., Brink, M., Wadman, S. K.
<strong>Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport?</strong>
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[PubMed: 117254]
[Full Text: https://doi.org/10.1007/BF01805591]
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<p class="mim-text-font">
Endres, W., Shin, Y. S., Gunther, R., Ibel, H., Duran, M., Wadman, S. K.
<strong>Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency.</strong>
Europ. J. Pediat. 148: 246-249, 1988.
[PubMed: 3215199]
[Full Text: https://doi.org/10.1007/BF00441412]
</p>
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<p class="mim-text-font">
Gray, R. G. F., Green, A., Basu, S. N., Constantine, G., Condie, R. G., Dorche, C., Vianey-Liaud, C., Desjacques, P.
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[PubMed: 2220930]
[Full Text: https://doi.org/10.1016/0002-9378(90)90691-y]
</p>
</li>
<li>
<p class="mim-text-font">
Johnson, J. L., Duran, M.
<strong>Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong>
New York: McGraw-Hill (pub.) 2001. Pp. 3163-3177.
</p>
</li>
<li>
<p class="mim-text-font">
Johnson, J. L., Rajagopalan, K. V.
<strong>Structural and metabolic relationship between the molybdenum cofactor and urothione.</strong>
Proc. Nat. Acad. Sci. 79: 6856-6860, 1982.
[PubMed: 6960353]
[Full Text: https://doi.org/10.1073/pnas.79.22.6856]
</p>
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<li>
<p class="mim-text-font">
Johnson, J. L., Waud, W. R., Rajagopalan, K. V., Duran, M., Beemer, F. A., Wadman, S. K.
<strong>Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.</strong>
Proc. Nat. Acad. Sci. 77: 3715-3719, 1980.
[PubMed: 6997882]
[Full Text: https://doi.org/10.1073/pnas.77.6.3715]
</p>
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<p class="mim-text-font">
Johnson, J. L., Wuebbens, M. M., Mandell, R., Shih, V. E.
<strong>Molybdenum cofactor biosynthesis in humans: identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor.</strong>
J. Clin. Invest. 83: 897-903, 1989.
[PubMed: 2522104]
[Full Text: https://doi.org/10.1172/JCI113974]
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<p class="mim-text-font">
Kugler, S., Hahnewald, R., Garrido, M., Reiss, J.
<strong>Long-term rescue of a lethal inherited disease by adeno-associated virus-mediated gene transfer in a mouse model of molybdenum-cofactor deficiency.</strong>
Am. J. Hum. Genet. 80: 291-297, 2007.
[PubMed: 17236133]
[Full Text: https://doi.org/10.1086/511281]
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<p class="mim-text-font">
Lee, H.-J., Adham, I. M., Schwarz, G., Kneussel, M., Sass, J. O., Engel, W., Reiss, J.
<strong>Molybdenum cofactor-deficient mice resemble the phenotype of human patients.</strong>
Hum. Molec. Genet. 11: 3309-3317, 2002.
[PubMed: 12471057]
[Full Text: https://doi.org/10.1093/hmg/11.26.3309]
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Mayr, S. J., Sass, J. O., Vry, J., Kirschner, J., Mader, I., Hovener, J. B., Reiss, J., Santamaria-Araujo, J. A., Schwarz, G., Grunert, S. C.
<strong>A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.</strong>
J. Inherit. Metab. Dis. 41: 187-196, 2018.
[PubMed: 29368224]
[Full Text: https://doi.org/10.1007/s10545-018-0138-7]
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Mechler, K., Mountford, W. K., Hoffmann, G. F., Ries, M.
<strong>Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency.</strong>
Genet. Med. 17: 965-970, 2015.
[PubMed: 25764214]
[Full Text: https://doi.org/10.1038/gim.2015.12]
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Parini, R., Briscioli, V., Caruso, U., Dorche, C., Fortuna, R., Minniti, G., Selicorni, A., Vismara, E., Mancini, G.
<strong>Spherophakia associated with molybdenum cofactor deficiency.</strong>
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[PubMed: 9415683]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19971219)73:3&lt;272::aid-ajmg8&gt;3.0.co;2-u]
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Reiss, J., Christensen, E., Dorche, C.
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[PubMed: 10327149]
[Full Text: https://doi.org/10.1002/(sici)1097-0223(199904)19:4&lt;386::aid-pd550&gt;3.0.co;2-#]
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Reiss, J., Christensen, E., Kurlemann, G., Zabot, M.-T., Dorche, C.
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[PubMed: 9921896]
[Full Text: https://doi.org/10.1007/s004390050884]
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Reiss, J., Cohen, N., Dorche, C., Mandel, H., Mendel, R. R., Stallmeyer, B., Zabot, M.-T., Dierks, T.
<strong>Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.</strong>
Nature Genet. 20: 51-53, 1998.
[PubMed: 9731530]
[Full Text: https://doi.org/10.1038/1706]
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Reiss, J., Johnson, J. L.
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[PubMed: 12754701]
[Full Text: https://doi.org/10.1002/humu.10223]
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<p class="mim-text-font">
Reiss, J., Lenz, U., Aquaviva-Bourdain, C., Joriot-Chekaf, S., Mention-Mulliez, K., Holder-Espinasse, M.
<strong>A GPHN point mutation leading to molybdenum cofactor deficiency. (Letter)</strong>
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[PubMed: 22040219]
[Full Text: https://doi.org/10.1111/j.1399-0004.2011.01709.x]
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Reiss, J.
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[PubMed: 10746556]
[Full Text: https://doi.org/10.1007/s004390051023]
</p>
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Roesel, R. A., Bowyer, F., Blankenship, P. R., Hommes, F. A.
<strong>Combined xanthine and sulphite oxidase defect due to a deficiency of molybdenum cofactor.</strong>
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[PubMed: 3104671]
[Full Text: https://doi.org/10.1007/BF01800483]
</p>
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<li>
<p class="mim-text-font">
Schwahn, B. C., Hart, C., Smith, L. A., Hart, A., Fairbanks, L., Arenas-Hernandez, M., Turner, C., Horman, A., Rust, S., Santamaria-Araujo, J. A., Mayr, S. J., Schwarz, G., Sharrard, M.
<strong>cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant.</strong>
Molec. Genet. Metab. 143: 108598, 2024.
[PubMed: 39488078]
[Full Text: https://doi.org/10.1016/j.ymgme.2024.108598]
</p>
</li>
<li>
<p class="mim-text-font">
Schwahn, B. C., van Spronsen, F., Misko, A., Pavaine, J., Holmes, V., Spiegel, R., Schwarz, G., Wong, F., Horman, A., Pitt, J., Sass, J. O., Lubout, C.
<strong>Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.</strong>
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[PubMed: 38627985]
[Full Text: https://doi.org/10.1002/jimd.12730]
</p>
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<li>
<p class="mim-text-font">
Schwarz, G., Santamaria-Araujo, J. A., Wolf, S., Lee, H.-J., Adham, I. M., Grone, H.-J., Schwegler, H., Sass, J. O., Otte, T., Hanzelmann, P., Mendel, R. R., Engel, W., Reiss, J.
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Hum. Molec. Genet. 13: 1249-1255, 2004.
[PubMed: 15115759]
[Full Text: https://doi.org/10.1093/hmg/ddh136]
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Shalata, A., Mandel, H., Reiss, J., Szargel, R., Cohen-Akenine, A., Dorche, C., Zabot, M.-T., Van Gennip, A., Abeling, N., Berant, M., Cohen, N.
<strong>Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.</strong>
Am. J. Hum. Genet. 63: 148-154, 1998.
[PubMed: 9634514]
[Full Text: https://doi.org/10.1086/301916]
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<li>
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Slot, H. M. J., Overweg-Plandsoen, W. C. G., Bakker, H. D., Abeling, N. G. G. M., Tamminga, P., Barth, P. G., Van Gennip, A. H.
<strong>Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions.</strong>
Neuropediatrics 24: 139-142, 1993.
[PubMed: 8355818]
[Full Text: https://doi.org/10.1055/s-2008-1071531]
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Van Gennip, A. H., Mandel, H., Stroomer, L. E., van Cruchten, A. G.
<strong>Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency.</strong>
Adv. Exp. Med. Biol. 370: 375-378, 1994.
[PubMed: 7660932]
[Full Text: https://doi.org/10.1007/978-1-4615-2584-4_81]
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Wadman, S. K., Cats, B. P., de Bree, P. K.
<strong>Sulfite oxidase deficiency and the detection of urinary sulfite. (Letter)</strong>
Europ. J. Pediat. 141: 62-63, 1983.
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