2343 lines
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Entry
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- #251120 - METHYLMALONYL-CoA EPIMERASE DEFICIENCY
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- OMIM
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<span class="h4">#251120</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/251120"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=METHYLMALONYL-CoA EPIMERASE DEFICIENCY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21311&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1231/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8868" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=251120[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=308425" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1293018007<br />
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<strong>ORPHA:</strong> 308425<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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251120
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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METHYLMALONYL-CoA EPIMERASE DEFICIENCY
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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METHYLMALONYL-CoA RACEMASE DEFICIENCY<br />
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METHYLMALONIC ACIDURIA III, FORMERLY
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<a id="includedTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY, INCLUDED
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</span>
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</div>
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<div>
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<br />
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</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
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<a href="/geneMap/2/347?start=-3&limit=10&highlight=347">
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2p13.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Methylmalonyl-CoA epimerase deficiency
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/251120"> 251120 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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MCEE
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/608419"> 608419 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/251120" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/251120" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/251120" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> GROWTH </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Other </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> ABDOMEN </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Gastrointestinal </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Gastroesophageal reflux <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/235595009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">235595009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/722884003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">722884003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/698065002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">698065002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K21</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K21.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K21.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/530.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">530.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3813607&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3813607</a>, <a href="https://bioportal.bioontology.org/search?q=C4317146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4317146</a>, <a href="https://bioportal.bioontology.org/search?q=C0017168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002020</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002020</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Metabolic acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59455009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59455009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220981</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span><br /> -
|
|
Dehydration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34095006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34095006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E86.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E86.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/276.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">276.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011175&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011175</a>, <a href="https://bioportal.bioontology.org/search?q=C2062903&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2062903</a>, <a href="https://bioportal.bioontology.org/search?q=C4284399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4284399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001944" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001944</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001944" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001944</a>]</span><br /> -
|
|
Self-regulated protein restriction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968644&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968644</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Methylmalonic aciduria, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968638&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968638</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42393006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42393006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E71.120" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E71.120</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012120" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012120</a>]</span><br /> -
|
|
Normal plasma total homocysteine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968639</a>]</span><br /> -
|
|
Elevated plasma propionylcarnitine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968640&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968640</a>]</span><br /> -
|
|
Ketonuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36815008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36815008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274783007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274783007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R82.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R82.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162275&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162275</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002919</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002919</a>]</span><br /> -
|
|
Normal B12 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968641&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968641</a>]</span><br />
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|
|
</span>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
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|
|
- Symptoms vary from asymptomatic patients to patients with metabolic acidosis<br />
|
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|
|
</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Caused by mutation in the methylmalonyl-CoA epimerase gene (MCEE, <a href="/entry/608419#0001">608419.0001</a>)<br />
|
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|
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</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
|
<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that methylmalonyl-CoA epimerase deficiency is caused by homozygous or compound heterozygous mutation in the MCEE gene (<a href="/entry/608419">608419</a>) on chromosome 2p13.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
|
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Clinical Features</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>Methylmalonic aciduria III, previously thought to be distinct from the other forms and to be due to deficiency of methylmalonyl CoA racemase, is shown not to be distinct by complementation studies. <a href="#6" class="mim-tip-reference" title="Montgomery, J. A., Mamer, O. A., Scriver, C. R. <strong>Metabolism of methylmalonic acid in rats: Is methylmalonyl-coenzyme A racemase deficiency symptomatic in man?</strong> J. Clin. Invest. 72: 1937-1947, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6643681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6643681</a>] [<a href="https://doi.org/10.1172/JCI111158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6643681">Montgomery et al. (1983)</a> concluded that deficiency of MM-CoA racemase need not result in symptomatic methylmalonic aciduria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6643681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bikker, H., Bakker, H. D., Abeling, N. G. G. M., Poll-The, B. T., Kleijer, W. J., Rosenblatt, D. S., Waterham, H. R., Wanders, R. J. A., Duran, M. <strong>A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.</strong> Hum. Mutat. 27: 640-643, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752391</a>] [<a href="https://doi.org/10.1002/humu.20373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752391">Bikker et al. (2006)</a> presented a 16-year-old female patient with persisting moderate methylmalonic aciduria. She was born to consanguineous Caucasian parents originating from the northwest part of the Netherlands. At the age of 2 years, retarded motor development and signs of spasticity were seen. Selective screening for metabolic disease revealed moderate methylmalonic aciduria. Methylmalonic acid in cerebrospinal fluid was moderately increased. Treatment involved reduction of dietary protein, which resulted in significant lowering of urinary methylmalonic acid; however, no clinical effects were observed and the patient's motor function showed a gradual deterioration leading to dystonia. Analysis of pterins and aromatic neurotransmitter metabolites in cerebrospinal fluid at the age of 14 years suggested a defect in sepiapterin reductase (<a href="/entry/182125">182125</a>), which was subsequently confirmed (<a href="#1" class="mim-tip-reference" title="Abeling, N. G., Duran, M., Bakker, H. D., Stroomer, L., Thony, B., Blau, N., Booij, J., Poll-The, B. T. <strong>Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.</strong> Molec. Genet. Metab. 89: 116-120, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16650784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16650784</a>] [<a href="https://doi.org/10.1016/j.ymgme.2006.03.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16650784">Abeling et al., 2006</a>). <a href="#1" class="mim-tip-reference" title="Abeling, N. G., Duran, M., Bakker, H. D., Stroomer, L., Thony, B., Blau, N., Booij, J., Poll-The, B. T. <strong>Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.</strong> Molec. Genet. Metab. 89: 116-120, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16650784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16650784</a>] [<a href="https://doi.org/10.1016/j.ymgme.2006.03.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16650784">Abeling et al. (2006)</a> pointed out a rapid and favorable response on treatment with L-DOPA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16752391+16650784" 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="Dobson, C. M., Gradinger, A., Longo, N., Wu, X., Leclerc, D., Lerner-Ellis, J., Lemieux, M., Belair, C., Watkins, D., Rosenblatt, D. S., Gravel, R. A. <strong>Homozygous nonsense mutations in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.</strong> Molec. Genet. Metab. 88: 327-333, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16697227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16697227</a>] [<a href="https://doi.org/10.1016/j.ymgme.2006.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16697227">Dobson et al. (2006)</a> reported a 12-year-old Caucasian female with methylmalonyl-CoA epimerase deficiency who had been assigned to the cblA complementation group (<a href="/entry/251100">251100</a>) on the basis of weak recovery of [(14)C]-propionate incorporation in complementation studies with members of the cblA group. She had failure to thrive and severe gastroesophageal reflux in infancy. At 13.5 months she presented with severe metabolic acidosis, dehydration, and tachypnea, requiring admission to intensive care following a 2-day history of intermittent vomiting and diarrhea. Urine organic acids indicated severe ketonuria and elevated methylmalonic and methylcitric acid, diagnostic of methylmalonic aciduria. <a href="#4" class="mim-tip-reference" title="Dobson, C. M., Gradinger, A., Longo, N., Wu, X., Leclerc, D., Lerner-Ellis, J., Lemieux, M., Belair, C., Watkins, D., Rosenblatt, D. S., Gravel, R. A. <strong>Homozygous nonsense mutations in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.</strong> Molec. Genet. Metab. 88: 327-333, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16697227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16697227</a>] [<a href="https://doi.org/10.1016/j.ymgme.2006.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16697227">Dobson et al. (2006)</a> found that an older sister of the proband was also affected. Other than hydrocephalus diagnosed in the first year of life, she had been completely asymptomatic in terms of methylmalonic aciduria. She successfully self-regulated protein intake. Her growth and development were normal except for macrocephaly due to hydrocephalus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16697227" 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="#7" class="mim-tip-reference" title="Waters, P. J., Thuriot, F., Clarke, J. T., Gravel, S., Watkins, D., Rosenblatt, D. S., Levesque, S. <strong>Methylmalonyl-CoA epimerase deficiency: a new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.</strong> Molec. Genet. Metab. Rep. 9: 19-24, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27699154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27699154</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27699154[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgmr.2016.09.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27699154">Waters et al. (2016)</a> reported a patient who presented with vomiting, dehydration, confusion, and hallucinations at 5 years of age. Laboratory testing showed severe metabolic acidosis, mild hyperammonemia, elevated creatine kinase, and ketosis. Urine and CSF organic acids showed elevated methylmalonate, methylcitrate, and 3-hydroxypropionate. After recovery from the acute episode, the patient was treated with carnitine and a low protein diet (which was eventually normalized), and she had no further metabolic decompensations. However, during a fever at 9 years of age, she had transient diplopia. Urine organic acid testing when she was well demonstrated elevated methylmalonate and milder elevations in methylcitrate and 3-hydroxypropionate compared to the acute state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27699154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with methylmalonic aciduria and retarded development with spasticity, <a href="#2" class="mim-tip-reference" title="Bikker, H., Bakker, H. D., Abeling, N. G. G. M., Poll-The, B. T., Kleijer, W. J., Rosenblatt, D. S., Waterham, H. R., Wanders, R. J. A., Duran, M. <strong>A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.</strong> Hum. Mutat. 27: 640-643, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752391</a>] [<a href="https://doi.org/10.1002/humu.20373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752391">Bikker et al. (2006)</a> found a homozygous mutation in the methylmalonyl-CoA epimerase gene (R47X; <a href="/entry/608419#0001">608419.0001</a>). A mutation in the gene encoding sepiapterin reductase (SPR) was also found (<a href="/entry/182125#0005">182125.0005</a>); deficiency of SPR was shown to result in dystonia as a prominent symptom by <a href="#3" class="mim-tip-reference" title="Bonafe, L., Thony, B., Penzien, J. M., Czarnecki, B., Blau, N. <strong>Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.</strong> Am. J. Hum. Genet. 69: 269-277, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11443547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11443547</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11443547[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/321970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11443547">Bonafe et al. (2001)</a>. The deficiency of methylmalonyl-CoA epimerase in the patient fully explained the in vitro biochemical findings that comprised a decreased propionate incorporation into macromolecules in cultured fibroblasts and a fully normal activity of methylmalonyl-CoA mutase in the same cells. As the patient of <a href="#2" class="mim-tip-reference" title="Bikker, H., Bakker, H. D., Abeling, N. G. G. M., Poll-The, B. T., Kleijer, W. J., Rosenblatt, D. S., Waterham, H. R., Wanders, R. J. A., Duran, M. <strong>A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.</strong> Hum. Mutat. 27: 640-643, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752391</a>] [<a href="https://doi.org/10.1002/humu.20373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752391">Bikker et al. (2006)</a> did not seem to be more severely affected than the patient of <a href="#3" class="mim-tip-reference" title="Bonafe, L., Thony, B., Penzien, J. M., Czarnecki, B., Blau, N. <strong>Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.</strong> Am. J. Hum. Genet. 69: 269-277, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11443547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11443547</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11443547[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/321970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11443547">Bonafe et al. (2001)</a>, <a href="#2" class="mim-tip-reference" title="Bikker, H., Bakker, H. D., Abeling, N. G. G. M., Poll-The, B. T., Kleijer, W. J., Rosenblatt, D. S., Waterham, H. R., Wanders, R. J. A., Duran, M. <strong>A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.</strong> Hum. Mutat. 27: 640-643, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752391</a>] [<a href="https://doi.org/10.1002/humu.20373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752391">Bikker et al. (2006)</a> suggested that isolated methylmalonyl-CoA epimerase deficiency may not have a large clinical impact or could even be considered a nondisease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11443547+16752391" 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="Dobson, C. M., Gradinger, A., Longo, N., Wu, X., Leclerc, D., Lerner-Ellis, J., Lemieux, M., Belair, C., Watkins, D., Rosenblatt, D. S., Gravel, R. A. <strong>Homozygous nonsense mutations in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.</strong> Molec. Genet. Metab. 88: 327-333, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16697227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16697227</a>] [<a href="https://doi.org/10.1016/j.ymgme.2006.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16697227">Dobson et al. (2006)</a> reported a patient with mild methylmalonic aciduria who was homozygous for the R47X mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16697227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with methylmalonyl-CoA epimerase deficiency, <a href="#7" class="mim-tip-reference" title="Waters, P. J., Thuriot, F., Clarke, J. T., Gravel, S., Watkins, D., Rosenblatt, D. S., Levesque, S. <strong>Methylmalonyl-CoA epimerase deficiency: a new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.</strong> Molec. Genet. Metab. Rep. 9: 19-24, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27699154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27699154</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27699154[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgmr.2016.09.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27699154">Waters et al. (2016)</a> identified compound heterozygous mutations in the MCEE gene: the R47X mutation and a novel intronic splice site mutation (c.379-644A-G; <a href="/entry/608419#0002">608419.0002</a>). The mother was heterozygous for the splice site mutation; the father was unavailable for study and was presumed to carry the R47X mutation. Studies in patient fibroblasts demonstrated reduced propionate incorporation, which was corrected with cellular complementation with fibroblasts from patients in the mut, cblA, and cblB complementation classes, but not with fibroblasts from a patient in the MCEE complementation class. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27699154" 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="#5" class="mim-tip-reference" title="Kang, E. S., Snodgrass, P. J., Gerald, P. S. <strong>Methylmalonyl-CoA racemase defect: another cause of methylmalonic aciduria. (Abstract)</strong> Pediat. Res. 6: 393 only, 1972."None>Kang et al. (1972)</a> described a single infant with methylmalonic aciduria due to deficiency of methylmalonyl-CoA racemase. <a href="#2" class="mim-tip-reference" title="Bikker, H., Bakker, H. D., Abeling, N. G. G. M., Poll-The, B. T., Kleijer, W. J., Rosenblatt, D. S., Waterham, H. R., Wanders, R. J. A., Duran, M. <strong>A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.</strong> Hum. Mutat. 27: 640-643, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752391</a>] [<a href="https://doi.org/10.1002/humu.20373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752391">Bikker et al. (2006)</a> stated that this was later shown to be a case of mutase deficiency (<a href="/entry/251000">251000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752391" 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>Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.</strong>
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Molec. Genet. Metab. 89: 116-120, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16650784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16650784</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16650784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bikker, H., Bakker, H. D., Abeling, N. G. G. M., Poll-The, B. T., Kleijer, W. J., Rosenblatt, D. S., Waterham, H. R., Wanders, R. J. A., Duran, M.
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<strong>A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.</strong>
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Hum. Mutat. 27: 640-643, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752391</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20373" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Bonafe2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Bonafe, L., Thony, B., Penzien, J. M., Czarnecki, B., Blau, N.
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<strong>Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.</strong>
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Am. J. Hum. Genet. 69: 269-277, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11443547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11443547</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11443547[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=11443547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/321970" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Dobson2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dobson, C. M., Gradinger, A., Longo, N., Wu, X., Leclerc, D., Lerner-Ellis, J., Lemieux, M., Belair, C., Watkins, D., Rosenblatt, D. S., Gravel, R. A.
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<strong>Homozygous nonsense mutations in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.</strong>
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Molec. Genet. Metab. 88: 327-333, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16697227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16697227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16697227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2006.03.009" target="_blank">Full Text</a>]
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</p>
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<a id="5" class="mim-anchor"></a>
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<a id="Kang1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kang, E. S., Snodgrass, P. J., Gerald, P. S.
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<strong>Methylmalonyl-CoA racemase defect: another cause of methylmalonic aciduria. (Abstract)</strong>
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Pediat. Res. 6: 393 only, 1972.
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</p>
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<a id="6" class="mim-anchor"></a>
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<a id="Montgomery1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Montgomery, J. A., Mamer, O. A., Scriver, C. R.
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<strong>Metabolism of methylmalonic acid in rats: Is methylmalonyl-coenzyme A racemase deficiency symptomatic in man?</strong>
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J. Clin. Invest. 72: 1937-1947, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6643681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6643681</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6643681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI111158" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Waters2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Waters, P. J., Thuriot, F., Clarke, J. T., Gravel, S., Watkins, D., Rosenblatt, D. S., Levesque, S.
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<strong>Methylmalonyl-CoA epimerase deficiency: a new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.</strong>
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Molec. Genet. Metab. Rep. 9: 19-24, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27699154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27699154</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27699154[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=27699154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgmr.2016.09.001" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 02/01/2023
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Ada Hamosh - updated : 6/28/2007<br>Victor A. McKusick - updated : 7/13/2006
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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alopez : 02/09/2023
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/01/2023<br>carol : 12/14/2022<br>carol : 06/21/2016<br>alopez : 12/3/2008<br>wwang : 11/30/2007<br>alopez : 7/6/2007<br>terry : 6/28/2007<br>alopez : 3/9/2007<br>alopez : 7/20/2006<br>alopez : 7/20/2006<br>terry : 7/13/2006<br>terry : 4/20/2005<br>terry : 6/6/2001<br>warfield : 4/15/1994<br>mimadm : 2/19/1994<br>supermim : 3/17/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>root : 5/3/1988
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<span class="mim-font">
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<strong>#</strong> 251120
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<h3>
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METHYLMALONYL-CoA EPIMERASE DEFICIENCY
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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METHYLMALONYL-CoA RACEMASE DEFICIENCY<br />
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METHYLMALONIC ACIDURIA III, FORMERLY
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<span class="mim-font">
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Other entities represented in this entry:
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<span class="h3 mim-font">
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METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY, INCLUDED
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1293018007;
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<strong>ORPHA:</strong> 308425;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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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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2p13.3
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<span class="mim-font">
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Methylmalonyl-CoA epimerase deficiency
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<span class="mim-font">
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251120
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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MCEE
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<span class="mim-font">
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608419
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that methylmalonyl-CoA epimerase deficiency is caused by homozygous or compound heterozygous mutation in the MCEE gene (608419) on chromosome 2p13.</p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Methylmalonic aciduria III, previously thought to be distinct from the other forms and to be due to deficiency of methylmalonyl CoA racemase, is shown not to be distinct by complementation studies. Montgomery et al. (1983) concluded that deficiency of MM-CoA racemase need not result in symptomatic methylmalonic aciduria. </p><p>Bikker et al. (2006) presented a 16-year-old female patient with persisting moderate methylmalonic aciduria. She was born to consanguineous Caucasian parents originating from the northwest part of the Netherlands. At the age of 2 years, retarded motor development and signs of spasticity were seen. Selective screening for metabolic disease revealed moderate methylmalonic aciduria. Methylmalonic acid in cerebrospinal fluid was moderately increased. Treatment involved reduction of dietary protein, which resulted in significant lowering of urinary methylmalonic acid; however, no clinical effects were observed and the patient's motor function showed a gradual deterioration leading to dystonia. Analysis of pterins and aromatic neurotransmitter metabolites in cerebrospinal fluid at the age of 14 years suggested a defect in sepiapterin reductase (182125), which was subsequently confirmed (Abeling et al., 2006). Abeling et al. (2006) pointed out a rapid and favorable response on treatment with L-DOPA. </p><p>Dobson et al. (2006) reported a 12-year-old Caucasian female with methylmalonyl-CoA epimerase deficiency who had been assigned to the cblA complementation group (251100) on the basis of weak recovery of [(14)C]-propionate incorporation in complementation studies with members of the cblA group. She had failure to thrive and severe gastroesophageal reflux in infancy. At 13.5 months she presented with severe metabolic acidosis, dehydration, and tachypnea, requiring admission to intensive care following a 2-day history of intermittent vomiting and diarrhea. Urine organic acids indicated severe ketonuria and elevated methylmalonic and methylcitric acid, diagnostic of methylmalonic aciduria. Dobson et al. (2006) found that an older sister of the proband was also affected. Other than hydrocephalus diagnosed in the first year of life, she had been completely asymptomatic in terms of methylmalonic aciduria. She successfully self-regulated protein intake. Her growth and development were normal except for macrocephaly due to hydrocephalus. </p><p>Waters et al. (2016) reported a patient who presented with vomiting, dehydration, confusion, and hallucinations at 5 years of age. Laboratory testing showed severe metabolic acidosis, mild hyperammonemia, elevated creatine kinase, and ketosis. Urine and CSF organic acids showed elevated methylmalonate, methylcitrate, and 3-hydroxypropionate. After recovery from the acute episode, the patient was treated with carnitine and a low protein diet (which was eventually normalized), and she had no further metabolic decompensations. However, during a fever at 9 years of age, she had transient diplopia. Urine organic acid testing when she was well demonstrated elevated methylmalonate and milder elevations in methylcitrate and 3-hydroxypropionate compared to the acute state. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In a patient with methylmalonic aciduria and retarded development with spasticity, Bikker et al. (2006) found a homozygous mutation in the methylmalonyl-CoA epimerase gene (R47X; 608419.0001). A mutation in the gene encoding sepiapterin reductase (SPR) was also found (182125.0005); deficiency of SPR was shown to result in dystonia as a prominent symptom by Bonafe et al. (2001). The deficiency of methylmalonyl-CoA epimerase in the patient fully explained the in vitro biochemical findings that comprised a decreased propionate incorporation into macromolecules in cultured fibroblasts and a fully normal activity of methylmalonyl-CoA mutase in the same cells. As the patient of Bikker et al. (2006) did not seem to be more severely affected than the patient of Bonafe et al. (2001), Bikker et al. (2006) suggested that isolated methylmalonyl-CoA epimerase deficiency may not have a large clinical impact or could even be considered a nondisease. </p><p>Dobson et al. (2006) reported a patient with mild methylmalonic aciduria who was homozygous for the R47X mutation. </p><p>In a patient with methylmalonyl-CoA epimerase deficiency, Waters et al. (2016) identified compound heterozygous mutations in the MCEE gene: the R47X mutation and a novel intronic splice site mutation (c.379-644A-G; 608419.0002). The mother was heterozygous for the splice site mutation; the father was unavailable for study and was presumed to carry the R47X mutation. Studies in patient fibroblasts demonstrated reduced propionate incorporation, which was corrected with cellular complementation with fibroblasts from patients in the mut, cblA, and cblB complementation classes, but not with fibroblasts from a patient in the MCEE complementation class. </p>
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<strong>History</strong>
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<p>Kang et al. (1972) described a single infant with methylmalonic aciduria due to deficiency of methylmalonyl-CoA racemase. Bikker et al. (2006) stated that this was later shown to be a case of mutase deficiency (251000). </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Abeling, N. G., Duran, M., Bakker, H. D., Stroomer, L., Thony, B., Blau, N., Booij, J., Poll-The, B. T.
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<strong>Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.</strong>
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Molec. Genet. Metab. 89: 116-120, 2006.
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[PubMed: 16650784]
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[Full Text: https://doi.org/10.1016/j.ymgme.2006.03.010]
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<p class="mim-text-font">
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Bikker, H., Bakker, H. D., Abeling, N. G. G. M., Poll-The, B. T., Kleijer, W. J., Rosenblatt, D. S., Waterham, H. R., Wanders, R. J. A., Duran, M.
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<strong>A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.</strong>
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Hum. Mutat. 27: 640-643, 2006.
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[PubMed: 16752391]
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[Full Text: https://doi.org/10.1002/humu.20373]
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</li>
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<li>
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<p class="mim-text-font">
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Bonafe, L., Thony, B., Penzien, J. M., Czarnecki, B., Blau, N.
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<strong>Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.</strong>
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Am. J. Hum. Genet. 69: 269-277, 2001.
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[PubMed: 11443547]
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[Full Text: https://doi.org/10.1086/321970]
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Dobson, C. M., Gradinger, A., Longo, N., Wu, X., Leclerc, D., Lerner-Ellis, J., Lemieux, M., Belair, C., Watkins, D., Rosenblatt, D. S., Gravel, R. A.
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<strong>Homozygous nonsense mutations in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.</strong>
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Molec. Genet. Metab. 88: 327-333, 2006.
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[PubMed: 16697227]
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[Full Text: https://doi.org/10.1016/j.ymgme.2006.03.009]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kang, E. S., Snodgrass, P. J., Gerald, P. S.
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<strong>Methylmalonyl-CoA racemase defect: another cause of methylmalonic aciduria. (Abstract)</strong>
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Pediat. Res. 6: 393 only, 1972.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Montgomery, J. A., Mamer, O. A., Scriver, C. R.
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<strong>Metabolism of methylmalonic acid in rats: Is methylmalonyl-coenzyme A racemase deficiency symptomatic in man?</strong>
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J. Clin. Invest. 72: 1937-1947, 1983.
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[PubMed: 6643681]
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[Full Text: https://doi.org/10.1172/JCI111158]
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</li>
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<li>
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<p class="mim-text-font">
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Waters, P. J., Thuriot, F., Clarke, J. T., Gravel, S., Watkins, D., Rosenblatt, D. S., Levesque, S.
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<strong>Methylmalonyl-CoA epimerase deficiency: a new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.</strong>
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Molec. Genet. Metab. Rep. 9: 19-24, 2016.
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[PubMed: 27699154]
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[Full Text: https://doi.org/10.1016/j.ymgmr.2016.09.001]
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Hilary J. Vernon - updated : 02/01/2023<br>Ada Hamosh - updated : 6/28/2007<br>Victor A. McKusick - updated : 7/13/2006
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Victor A. McKusick : 6/4/1986
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