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Entry
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- #602079 - TRIMETHYLAMINURIA; TMAU
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- OMIM
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<p>
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<span class="h4">#602079</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/602079"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=TRIMETHYLAMINURIA" 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=24238&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/NBK1103/" 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/7223" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/trimethylaminuria" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=602079[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=468726" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080361" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/602079" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001360/" 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>
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<div><a href="https://wormbase.org/resources/disease/DOID:0080361" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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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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<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">
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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> 237959005<br />
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<strong>ICD10CM:</strong> E72.52<br />
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<strong>ORPHA:</strong> 468726<br />
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<strong>DO:</strong> 0080361<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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602079
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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TRIMETHYLAMINURIA; TMAU
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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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FISH-ODOR SYNDROME
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1413?start=-3&limit=10&highlight=1413">
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1q24.3
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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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Trimethylaminuria
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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/602079"> 602079 </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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</span>
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</td>
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<td>
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<span class="mim-font">
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FMO3
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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/136132"> 136132 </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>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/602079" 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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</div>
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<div class="btn-group">
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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/602079" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/602079" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tachycardia (after eating cheese, in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86651002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86651002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3424008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3424008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R00.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/785.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">785.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3827868&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3827868</a>, <a href="https://bioportal.bioontology.org/search?q=C0039231&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039231</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001649" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001649</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001649" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001649</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypertension, severe (after eating cheese, in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013784</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pulmonary infections (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128601007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128601007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0876973&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0876973</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006532" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006532</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006532" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006532</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
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|
|
<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> Behavioral Psychiatric Manifestations </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Depression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78667006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78667006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35489007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35489007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366979004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366979004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255339005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255339005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F34.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F34.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F32.A" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F32.A</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F33.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F33.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0812393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0812393</a>, <a href="https://bioportal.bioontology.org/search?q=C0011581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011581</a>, <a href="https://bioportal.bioontology.org/search?q=C0460137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0460137</a>, <a href="https://bioportal.bioontology.org/search?q=C1579931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1579931</a>, <a href="https://bioportal.bioontology.org/search?q=C0344315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344315</a>, <a href="https://bioportal.bioontology.org/search?q=C4085311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085311</a>, <a href="https://bioportal.bioontology.org/search?q=C0011570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011570</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span><br /> -
|
|
Suicidal <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267073005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267073005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0438696&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0438696</a>]</span><br /> -
|
|
Psychosocial problems in school <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315279</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Anemia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br /> -
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Neutropenia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/303011007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">303011007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165517008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165517008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84828003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84828003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.819</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D70.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853697</a>, <a href="https://bioportal.bioontology.org/search?q=C0027947&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027947</a>, <a href="https://bioportal.bioontology.org/search?q=C0023530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023530</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001875</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001875</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Trimethylaminuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237959005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237959005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E72.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E72.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0342739&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0342739</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003614" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003614</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003614" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003614</a>]</span><br /> -
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Deficiency of FMO-mediated N-oxidation of amino-trimethylamine (TMA) derived from foodstuffs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315278</a>]</span><br /> -
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Large amounts of TMA in urine, sweat, and breath <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315277&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315277</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Offensive fishy body odor<br />
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- Caused by mutation in the flavin-containing monooxygenase 3 gene (FMO3, <a href="/entry/136132#0001">136132.0001</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that trimethylaminuria, sometimes referred to as fish-odor syndrome, is caused by homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 (FMO3; <a href="/entry/136132">136132</a>) on chromosome 1q24.</p><p>Another inborn error of metabolism accompanied by fish-like body odor results from deficiency of dimethylglycine dehydrogenase (see <a href="/entry/605850">605850</a>).</p>
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<p>Trimethylaminuria results from the abnormal presence of large amounts of volatile and malodorous trimethylamine within the body. This chemical, a tertiary aliphatic amine, is excreted in the urine, sweat (ichthyohidrosis), and breath, which take on the offensive odor of decaying fish (<a href="#14" class="mim-tip-reference" title="Mitchell, S. C. <strong>The fish-odor syndrome.</strong> Perspect. Biol. Med. 39: 514-526, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8753757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8753757</a>] [<a href="https://doi.org/10.1353/pbm.1996.0003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8753757">Mitchell, 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8753757" 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>Individuals with trimethylaminuria excrete relatively large amounts of amino-trimethylamine (TMA) in their urine, sweat, and breath, and exhibit a fishy body odor characteristic of the malodorous free amine, leading to the designation fish-odor syndrome. TMA is a product of intestinal bacterial action. The substrates from which it is derived are choline, which, bound to lecithin, is present most abundantly in egg yolk, liver, kidney, legumes, soy beans, and peas, as well as from trimethylamine-N-oxide, a normal constituent of saltwater fishes. Normally, TMA produced in the gut is absorbed and oxidized in the liver by FMO, a microsomal mixed-function oxidase (<a href="#9" class="mim-tip-reference" title="Higgins, T., Chaykin, S., Hammond, K. B., Humbert, J. R. <strong>Trimethylamine-N-oxide synthesis: a human variant.</strong> Biochem. Med. 6: 392-396, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5048998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5048998</a>] [<a href="https://doi.org/10.1016/0006-2944(72)90025-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5048998">Higgins et al., 1972</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5048998" 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="#10" class="mim-tip-reference" title="Humbert, J. R., Hammond, K. B., Hathaway, W. E., Marcoux, J., O'Brien, D. <strong>Trimethylaminuria: the fish-odour syndrome. (Letter)</strong> Lancet 296: 770-771, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4195988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4195988</a>] [<a href="https://doi.org/10.1016/s0140-6736(70)90241-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4195988">Humbert et al. (1970)</a> first used the terms trimethylaminuria and fish-odor syndrome to describe a 6-year-old girl who intermittently had a fishy odor. She also had multiple pulmonary infections beginning in the neonatal period, the clinical stigmata of Turner syndrome but normal karyotype, splenomegaly, anemia, and neutropenia. Her urine contained increased amounts of TMA. In the same patient, <a href="#11" class="mim-tip-reference" title="Humbert, J. R., Hammond, K. B., Hathaway, W. E., Marcoux, J., O'Brien, D. <strong>The stale-fish syndrome: a new metabolic disorder associated with trimethylaminuria. (Abstract)</strong> Pediat. Res. 5: 395 only, 1971."None>Humbert et al. (1971)</a> found defective membrane function in platelets, neutrophils, and red cells, and <a href="#9" class="mim-tip-reference" title="Higgins, T., Chaykin, S., Hammond, K. B., Humbert, J. R. <strong>Trimethylamine-N-oxide synthesis: a human variant.</strong> Biochem. Med. 6: 392-396, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5048998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5048998</a>] [<a href="https://doi.org/10.1016/0006-2944(72)90025-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5048998">Higgins et al. (1972)</a> found deficiency of trimethylamine oxidase by liver biopsy. <a href="#6" class="mim-tip-reference" title="Calvert, G. D. <strong>Trimethylaminuria and inherited Noonan's syndrome.</strong> Lancet 301: 320-321, 1973. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4119196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4119196</a>] [<a href="https://doi.org/10.1016/s0140-6736(73)91566-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4119196">Calvert (1973)</a> noted that the features in the patient of <a href="#10" class="mim-tip-reference" title="Humbert, J. R., Hammond, K. B., Hathaway, W. E., Marcoux, J., O'Brien, D. <strong>Trimethylaminuria: the fish-odour syndrome. (Letter)</strong> Lancet 296: 770-771, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4195988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4195988</a>] [<a href="https://doi.org/10.1016/s0140-6736(70)90241-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4195988">Humbert et al. (1970)</a> were those of Noonan syndrome (<a href="/entry/163950">163950</a>). He studied a clinically identical patient but found no trimethylaminuria with or without loading with trimethylamine. <a href="#17" class="mim-tip-reference" title="Witt, D. R., McGillivray, B. C., Allanson, J. E., Hughes, H. E., Hathaway, W. E., Zipursky, A., Hall, J. G. <strong>Bleeding diathesis in Noonan syndrome: a common association.</strong> Am. J. Med. Genet. 31: 305-317, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3232698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3232698</a>] [<a href="https://doi.org/10.1002/ajmg.1320310208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3232698">Witt et al. (1988)</a> included the patient of <a href="#10" class="mim-tip-reference" title="Humbert, J. R., Hammond, K. B., Hathaway, W. E., Marcoux, J., O'Brien, D. <strong>Trimethylaminuria: the fish-odour syndrome. (Letter)</strong> Lancet 296: 770-771, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4195988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4195988</a>] [<a href="https://doi.org/10.1016/s0140-6736(70)90241-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4195988">Humbert et al. (1970)</a> in their series of cases of Noonan syndrome with bleeding diathesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3232698+4195988+4119196+5048998" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Lee, C. W. G., Yu, J. S., Turner, B. B., Murray, K. E. <strong>Trimethylaminuria: fishy odors in children.</strong> New Eng. J. Med. 295: 937-938, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/987531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">987531</a>] [<a href="https://doi.org/10.1056/NEJM197610212951706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="987531">Lee et al. (1976)</a> observed a brother and sister with trimethylaminuria; in both, an offensive fishy odor occurred when the mother was breast feeding them and had eaten eggs or fish. <a href="#7" class="mim-tip-reference" title="Danks, D. M., Hammond, J., Faull, K., Burke, D., Halpern, B. <strong>Trimethylaminuria: diet does not always control the fishy odor. (Letter)</strong> New Eng. J. Med. 295: 962, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/987532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">987532</a>]" pmid="987532">Danks et al. (1976)</a> referred to 4 affected individuals in their personal experience. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=987532+987531" 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="#13" class="mim-tip-reference" title="Mayatepek, E., Kohlmuller, D. <strong>Transient trimethylaminuria in childhood.</strong> Acta Paediat. 87: 1205-1207, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9846928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9846928</a>] [<a href="https://doi.org/10.1080/080352598750031257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9846928">Mayatepek and Kohlmuller (1998)</a> described 2 unrelated children with transient trimethylaminuria. One was a 2-month-old female infant referred because of an offensive odor on her skin and from her urine which was noticed by the parents. When the child was 6 months old, the fishy odor completely disappeared. The second patient was a 4-year-old boy who was referred because of smelly urine and skin which had been noticed by his mother from about the age of 18 months. In these children, transient trimethylaminuria occurred without N-oxidation deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9846928" 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="#19" class="mim-tip-reference" title="Zschocke, J., Kohlmueller, D., Quak, E., Meissner, T., Hoffmann, G. F., Mayatepek, E. <strong>Mild trimethylaminuria caused by common variants in FMO3 gene.</strong> Lancet 354: 834-835, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10485731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10485731</a>] [<a href="https://doi.org/10.1016/s0140-6736(99)80019-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10485731">Zschocke et al. (1999)</a> studied patients with mild trimethylaminuria and concluded that FMO3 deficiency is a spectrum of phenotypes that can include transient or mild malodor depending on environmental exposures. Mild FMO3 deficiency may have clinical relevance beyond intermittent body odor leading to an abnormal metabolism of drugs, hypertension, or increased cardiovascular disease risk. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10485731" 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="Todd, W. A. <strong>Psychosocial problems as the major complication of an adolescent with trimethylaminuria.</strong> J. Pediat. 94: 936-937, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/448539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">448539</a>] [<a href="https://doi.org/10.1016/s0022-3476(79)80224-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="448539">Todd (1979)</a> noted that patients with TMA may be deeply disturbed, depressed, and even suicidal, with psychosocial problems in school. <a href="#15" class="mim-tip-reference" title="Rehman, H.U. <strong>Fish odour syndrome.</strong> Postgrad. Med. J. 75: 451-452, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10646019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10646019</a>] [<a href="https://doi.org/10.1136/pgmj.75.886.451" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10646019">Rehman (1999)</a> also reported that patients with TMA often have psychosocial problems, including strong feelings of shame, embarrassment, low self-esteem, social isolation, anxiety, and depression. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10646019+448539" 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>Treatment for trimethylaminuria can involve counseling, dietary adjustments, short-course treatment with metronidazole, neomycin, or lactulose, and the use of soaps with a pH value of 5.5-6.5 (<a href="#15" class="mim-tip-reference" title="Rehman, H.U. <strong>Fish odour syndrome.</strong> Postgrad. Med. J. 75: 451-452, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10646019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10646019</a>] [<a href="https://doi.org/10.1136/pgmj.75.886.451" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10646019">Rehman, 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10646019" 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="Ayesh, R., Mitchell, S. C., Zhang, A., Smith, R. L. <strong>The fish odour syndrome: biochemical, familial, and clinical aspects.</strong> Brit. Med. J. 307: 655-657, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8401051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8401051</a>] [<a href="https://doi.org/10.1136/bmj.307.6905.655" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8401051">Ayesh et al. (1993)</a> studied 187 subjects with suspected body malodor and concluded that the trimethylaminuria is inherited as an autosomal recessive trait. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8401051" 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>Al-Waiz et al. (<a href="#2" class="mim-tip-reference" title="Al-Waiz, M., Ayesh, R., Mitchell, S. C., Idle, J. R., Smith, R. L. <strong>Trimethylaminuria (fish-odour syndrome): an inborn error of oxidative metabolism. (Letter)</strong> Lancet 329: 634-635, 1987. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2881174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2881174</a>] [<a href="https://doi.org/10.1016/s0140-6736(87)90280-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2881174">1987</a>, <a href="#3" class="mim-tip-reference" title="Al-Waiz, M., Ayesh, R., Mitchell, S. C., Idle, J. R., Smith, R. L. <strong>Trimethylaminuria ('fish-odour syndrome'): a study of an affected family.</strong> Clin. Sci. (Lond.) 74: 231-236, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3345632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3345632</a>] [<a href="https://doi.org/10.1042/cs0740231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3345632">1988</a>) presented evidence for deficiency in the N-oxidation of trimethylamine in persons with trimethylaminuria. The parents of affected persons showed partial impairment of N-oxidation on substrate challenge. They found 2 possible carriers among 169 randomly screened persons. N-oxidation is an important route of biotransformation for many substances including nicotinamide, nicotine, guanethidine, and metyrapone. <a href="#4" class="mim-tip-reference" title="Al-Waiz, M., Ayesh, R., Mitchell, S. C., Idle, J. R., Smith, R. L. <strong>Trimethylaminuria: the detection of carriers using a trimethylamine load test.</strong> J. Inherit. Metab. Dis. 12: 80-85, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2501587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2501587</a>] [<a href="https://doi.org/10.1007/BF01805534" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2501587">Al-Waiz et al. (1989)</a> described a TMA loading test for detection of carriers. <a href="#18" class="mim-tip-reference" title="Zhang, A. Q., Mitchell, S., Smith, R. <strong>Fish odour syndrome: verification of carrier detection test.</strong> J. Inherit. Metab. Dis. 18: 669-674, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8750603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8750603</a>] [<a href="https://doi.org/10.1007/BF02436755" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8750603">Zhang et al. (1995)</a> confirmed the oral trimethylamine challenge test for the identification of heterozygotes. Among 100 apparently normal volunteers who were challenged with trimethylamine, 1 had an N-oxidation capacity that fell within the range found among obligate heterozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2501587+3345632+8750603+2881174" 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="#5" class="mim-tip-reference" title="Ayesh, R., Mitchell, S. C., Zhang, A., Smith, R. L. <strong>The fish odour syndrome: biochemical, familial, and clinical aspects.</strong> Brit. Med. J. 307: 655-657, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8401051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8401051</a>] [<a href="https://doi.org/10.1136/bmj.307.6905.655" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8401051">Ayesh et al. (1993)</a> studied 187 subjects with suspected body malodor ascertained in response to a newspaper story concerning the fish-odor syndrome. Biochemical tests were performed in 156 of the patients and 5 families of 6 of the subjects with the fish-odor syndrome agreed to further tests. The fish-odor syndrome was diagnosed in 11 subjects; the percentage of total trimethylamine excreted in their urine samples that was oxidized to trimethylamine N-oxide was less than 55% under normal dietary conditions and less than 25% after oral challenge with trimethylamine. In normal subjects, more than 80% of trimethylamine was N-oxidized. All parents of 6 subjects with the syndrome who were tested showed impaired N-oxidation of excreted trimethylamine after oral challenge, indicating that they were heterozygous carriers of the allele for the syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8401051" 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="#13" class="mim-tip-reference" title="Mayatepek, E., Kohlmuller, D. <strong>Transient trimethylaminuria in childhood.</strong> Acta Paediat. 87: 1205-1207, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9846928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9846928</a>] [<a href="https://doi.org/10.1080/080352598750031257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9846928">Mayatepek and Kohlmuller (1998)</a> found that transient trimethylaminuria in 2 children occurred without N-oxidation deficiency. This demonstrated that a diagnosis of fish-odor syndrome should include the analysis of urinary excretion not only of trimethylamine but also of trimethylamine-N-oxide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9846928" 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="#1" class="mim-tip-reference" title="Akerman, B. R., Chow, L., Forrest, S., Youil, R., Cashman, J., Treacy, E. P. <strong>Mutations in the flavin-containing monoxygenase (sic) form 3 (FMO3) gene cause trimethylaminuria, fish odour syndrome. (Abstract)</strong> Am. J. Hum. Genet. 61 (suppl.): A53 only, 1997."None>Akerman et al. (1997)</a> and <a href="#8" class="mim-tip-reference" title="Dolphin, C. T., Janmohamed, A., Smith, R. L., Shephard, E. A., Phillips, I. R. <strong>Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome.</strong> Nature Genet. 17: 491-494, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9398858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9398858</a>] [<a href="https://doi.org/10.1038/ng1297-491" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9398858">Dolphin et al. (1997)</a> demonstrated that trimethylaminuria is caused by mutation in the FMO3 gene (<a href="/entry/136132">136132</a>). One individual of British extraction was shown to be homozygous for an E305X mutation (<a href="/entry/136132#0001">136132.0001</a>) of the FMO3 gene; this person, in addition to trimethylaminuria, had tachycardia and severe hypertension after eating cheese (which contains tyramine) and after using nasal epinephrine following an epistaxis (<a href="#7" class="mim-tip-reference" title="Danks, D. M., Hammond, J., Faull, K., Burke, D., Halpern, B. <strong>Trimethylaminuria: diet does not always control the fishy odor. (Letter)</strong> New Eng. J. Med. 295: 962, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/987532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">987532</a>]" pmid="987532">Danks et al., 1976</a>). The FMO3 enzyme metabolizes tyramine. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=987532+9398858" 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="#19" class="mim-tip-reference" title="Zschocke, J., Kohlmueller, D., Quak, E., Meissner, T., Hoffmann, G. F., Mayatepek, E. <strong>Mild trimethylaminuria caused by common variants in FMO3 gene.</strong> Lancet 354: 834-835, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10485731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10485731</a>] [<a href="https://doi.org/10.1016/s0140-6736(99)80019-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10485731">Zschocke et al. (1999)</a> examined the patients of <a href="#13" class="mim-tip-reference" title="Mayatepek, E., Kohlmuller, D. <strong>Transient trimethylaminuria in childhood.</strong> Acta Paediat. 87: 1205-1207, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9846928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9846928</a>] [<a href="https://doi.org/10.1080/080352598750031257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9846928">Mayatepek and Kohlmuller (1998)</a> with transient trimethylaminuria and other patients with mild trimethylaminuria and found compound heterozygosity for a missense mutation on one allele and 2 amino acid polymorphisms (E158K, E308G) on the other allele (see, e.g., <a href="/entry/136132#0015">136132.0015</a>). <a href="#19" class="mim-tip-reference" title="Zschocke, J., Kohlmueller, D., Quak, E., Meissner, T., Hoffmann, G. F., Mayatepek, E. <strong>Mild trimethylaminuria caused by common variants in FMO3 gene.</strong> Lancet 354: 834-835, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10485731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10485731</a>] [<a href="https://doi.org/10.1016/s0140-6736(99)80019-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10485731">Zschocke et al. (1999)</a> found that the variant allele with the 2 polymorphisms occurred in 20% and 6% of German and Turkish controls, respectively. The authors performed standardized TMA challenge tests in the controls with this variant allele and found markedly reduced FMO3 enzyme activity in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9846928+10485731" 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>Reports of fish-like odor in people have been found in literature as far back as 1400-1000 B.C. in the Indian epic of the Bharata Dynasty, 'Mahabharata,' by Vyasa (<a href="#14" class="mim-tip-reference" title="Mitchell, S. C. <strong>The fish-odor syndrome.</strong> Perspect. Biol. Med. 39: 514-526, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8753757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8753757</a>] [<a href="https://doi.org/10.1353/pbm.1996.0003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8753757">Mitchell, 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8753757" 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>REFERENCES</strong>
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<a id="Al-Waiz1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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[<a href="https://doi.org/10.1016/s0140-6736(87)90280-7" target="_blank">Full Text</a>]
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<a id="Al-Waiz1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Al-Waiz, M., Ayesh, R., Mitchell, S. C., Idle, J. R., Smith, R. L.
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<strong>Trimethylaminuria ('fish-odour syndrome'): a study of an affected family.</strong>
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[<a href="https://doi.org/10.1042/cs0740231" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Al-Waiz1989" class="mim-anchor"></a>
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<div class="">
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Al-Waiz, M., Ayesh, R., Mitchell, S. C., Idle, J. R., Smith, R. L.
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<strong>Trimethylaminuria: the detection of carriers using a trimethylamine load test.</strong>
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[<a href="https://doi.org/10.1007/BF01805534" target="_blank">Full Text</a>]
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<a id="Ayesh1993" class="mim-anchor"></a>
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Ayesh, R., Mitchell, S. C., Zhang, A., Smith, R. L.
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Brit. Med. J. 307: 655-657, 1993.
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[<a href="https://doi.org/10.1136/bmj.307.6905.655" target="_blank">Full Text</a>]
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<a id="Calvert1973" class="mim-anchor"></a>
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Calvert, G. D.
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<strong>Trimethylaminuria and inherited Noonan's syndrome.</strong>
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Lancet 301: 320-321, 1973. Note: Originally Volume I.
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[<a href="https://doi.org/10.1016/s0140-6736(73)91566-3" target="_blank">Full Text</a>]
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<a id="Danks1976" class="mim-anchor"></a>
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Danks, D. M., Hammond, J., Faull, K., Burke, D., Halpern, B.
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<strong>Trimethylaminuria: diet does not always control the fishy odor. (Letter)</strong>
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New Eng. J. Med. 295: 962, 1976.
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<strong>Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome.</strong>
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[<a href="https://doi.org/10.1038/ng1297-491" target="_blank">Full Text</a>]
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</p>
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<a id="9" class="mim-anchor"></a>
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<a id="Higgins1972" class="mim-anchor"></a>
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<div class="">
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Higgins, T., Chaykin, S., Hammond, K. B., Humbert, J. R.
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<strong>Trimethylamine-N-oxide synthesis: a human variant.</strong>
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Biochem. Med. 6: 392-396, 1972.
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[<a href="https://doi.org/10.1016/0006-2944(72)90025-7" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Humbert1970" class="mim-anchor"></a>
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<div class="">
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<strong>Trimethylaminuria: the fish-odour syndrome. (Letter)</strong>
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[<a href="https://doi.org/10.1016/s0140-6736(70)90241-2" target="_blank">Full Text</a>]
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<a id="Humbert1971" class="mim-anchor"></a>
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<div class="">
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<strong>The stale-fish syndrome: a new metabolic disorder associated with trimethylaminuria. (Abstract)</strong>
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[<a href="https://doi.org/10.1056/NEJM197610212951706" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1080/080352598750031257" target="_blank">Full Text</a>]
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<a id="Mitchell1996" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1353/pbm.1996.0003" target="_blank">Full Text</a>]
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<a id="Rehman1999" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1136/pgmj.75.886.451" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(79)80224-3" target="_blank">Full Text</a>]
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<a id="Witt1988" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1002/ajmg.1320310208" target="_blank">Full Text</a>]
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<a id="Zhang1995" class="mim-anchor"></a>
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Zhang, A. Q., Mitchell, S., Smith, R.
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[<a href="https://doi.org/10.1007/BF02436755" target="_blank">Full Text</a>]
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Zschocke, J., Kohlmueller, D., Quak, E., Meissner, T., Hoffmann, G. F., Mayatepek, E.
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<strong>Mild trimethylaminuria caused by common variants in FMO3 gene.</strong>
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Lancet 354: 834-835, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10485731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10485731</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10485731" 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/s0140-6736(99)80019-1" 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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Joanna S. Amberger - revised : 10/22/2008
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<span class="mim-text-font">
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Victor A. McKusick - updated : 2/9/2006<br>Victor A. McKusick - updated : 2/1/1999
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<span class="mim-text-font">
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Victor A. McKusick : 10/25/1997
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carol : 04/24/2023
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joanna : 03/24/2017<br>terry : 03/21/2012<br>terry : 4/3/2009<br>carol : 10/27/2008<br>carol : 10/24/2008<br>joanna : 10/22/2008<br>ckniffin : 8/9/2006<br>alopez : 2/14/2006<br>terry : 2/9/2006<br>carol : 2/3/1999<br>terry : 2/1/1999<br>terry : 3/20/1998<br>terry : 2/4/1998<br>terry : 10/28/1997<br>mark : 10/25/1997<br>mark : 10/25/1997
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<span class="mim-font">
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<strong>#</strong> 602079
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TRIMETHYLAMINURIA; TMAU
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FISH-ODOR SYNDROME
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<strong>SNOMEDCT:</strong> 237959005;
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<strong>ICD10CM:</strong> E72.52;
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<strong>ORPHA:</strong> 468726;
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<strong>DO:</strong> 0080361;
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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 <br /> MIM number
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1q24.3
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Trimethylaminuria
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<span class="mim-font">
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602079
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Autosomal recessive
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3
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FMO3
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136132
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that trimethylaminuria, sometimes referred to as fish-odor syndrome, is caused by homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 (FMO3; 136132) on chromosome 1q24.</p><p>Another inborn error of metabolism accompanied by fish-like body odor results from deficiency of dimethylglycine dehydrogenase (see 605850).</p>
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<strong>Description</strong>
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<p>Trimethylaminuria results from the abnormal presence of large amounts of volatile and malodorous trimethylamine within the body. This chemical, a tertiary aliphatic amine, is excreted in the urine, sweat (ichthyohidrosis), and breath, which take on the offensive odor of decaying fish (Mitchell, 1996). </p>
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<strong>Clinical Features</strong>
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<p>Individuals with trimethylaminuria excrete relatively large amounts of amino-trimethylamine (TMA) in their urine, sweat, and breath, and exhibit a fishy body odor characteristic of the malodorous free amine, leading to the designation fish-odor syndrome. TMA is a product of intestinal bacterial action. The substrates from which it is derived are choline, which, bound to lecithin, is present most abundantly in egg yolk, liver, kidney, legumes, soy beans, and peas, as well as from trimethylamine-N-oxide, a normal constituent of saltwater fishes. Normally, TMA produced in the gut is absorbed and oxidized in the liver by FMO, a microsomal mixed-function oxidase (Higgins et al., 1972). </p><p>Humbert et al. (1970) first used the terms trimethylaminuria and fish-odor syndrome to describe a 6-year-old girl who intermittently had a fishy odor. She also had multiple pulmonary infections beginning in the neonatal period, the clinical stigmata of Turner syndrome but normal karyotype, splenomegaly, anemia, and neutropenia. Her urine contained increased amounts of TMA. In the same patient, Humbert et al. (1971) found defective membrane function in platelets, neutrophils, and red cells, and Higgins et al. (1972) found deficiency of trimethylamine oxidase by liver biopsy. Calvert (1973) noted that the features in the patient of Humbert et al. (1970) were those of Noonan syndrome (163950). He studied a clinically identical patient but found no trimethylaminuria with or without loading with trimethylamine. Witt et al. (1988) included the patient of Humbert et al. (1970) in their series of cases of Noonan syndrome with bleeding diathesis. </p><p>Lee et al. (1976) observed a brother and sister with trimethylaminuria; in both, an offensive fishy odor occurred when the mother was breast feeding them and had eaten eggs or fish. Danks et al. (1976) referred to 4 affected individuals in their personal experience. </p><p>Mayatepek and Kohlmuller (1998) described 2 unrelated children with transient trimethylaminuria. One was a 2-month-old female infant referred because of an offensive odor on her skin and from her urine which was noticed by the parents. When the child was 6 months old, the fishy odor completely disappeared. The second patient was a 4-year-old boy who was referred because of smelly urine and skin which had been noticed by his mother from about the age of 18 months. In these children, transient trimethylaminuria occurred without N-oxidation deficiency. </p><p>Zschocke et al. (1999) studied patients with mild trimethylaminuria and concluded that FMO3 deficiency is a spectrum of phenotypes that can include transient or mild malodor depending on environmental exposures. Mild FMO3 deficiency may have clinical relevance beyond intermittent body odor leading to an abnormal metabolism of drugs, hypertension, or increased cardiovascular disease risk. </p><p>Todd (1979) noted that patients with TMA may be deeply disturbed, depressed, and even suicidal, with psychosocial problems in school. Rehman (1999) also reported that patients with TMA often have psychosocial problems, including strong feelings of shame, embarrassment, low self-esteem, social isolation, anxiety, and depression. </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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<span class="mim-text-font">
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<p>Treatment for trimethylaminuria can involve counseling, dietary adjustments, short-course treatment with metronidazole, neomycin, or lactulose, and the use of soaps with a pH value of 5.5-6.5 (Rehman, 1999). </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</h4>
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<span class="mim-text-font">
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<p>Ayesh et al. (1993) studied 187 subjects with suspected body malodor and concluded that the trimethylaminuria is inherited as an autosomal recessive trait. </p>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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<span class="mim-text-font">
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<p>Al-Waiz et al. (1987, 1988) presented evidence for deficiency in the N-oxidation of trimethylamine in persons with trimethylaminuria. The parents of affected persons showed partial impairment of N-oxidation on substrate challenge. They found 2 possible carriers among 169 randomly screened persons. N-oxidation is an important route of biotransformation for many substances including nicotinamide, nicotine, guanethidine, and metyrapone. Al-Waiz et al. (1989) described a TMA loading test for detection of carriers. Zhang et al. (1995) confirmed the oral trimethylamine challenge test for the identification of heterozygotes. Among 100 apparently normal volunteers who were challenged with trimethylamine, 1 had an N-oxidation capacity that fell within the range found among obligate heterozygotes. </p><p>Ayesh et al. (1993) studied 187 subjects with suspected body malodor ascertained in response to a newspaper story concerning the fish-odor syndrome. Biochemical tests were performed in 156 of the patients and 5 families of 6 of the subjects with the fish-odor syndrome agreed to further tests. The fish-odor syndrome was diagnosed in 11 subjects; the percentage of total trimethylamine excreted in their urine samples that was oxidized to trimethylamine N-oxide was less than 55% under normal dietary conditions and less than 25% after oral challenge with trimethylamine. In normal subjects, more than 80% of trimethylamine was N-oxidized. All parents of 6 subjects with the syndrome who were tested showed impaired N-oxidation of excreted trimethylamine after oral challenge, indicating that they were heterozygous carriers of the allele for the syndrome. </p><p>Mayatepek and Kohlmuller (1998) found that transient trimethylaminuria in 2 children occurred without N-oxidation deficiency. This demonstrated that a diagnosis of fish-odor syndrome should include the analysis of urinary excretion not only of trimethylamine but also of trimethylamine-N-oxide. </p>
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</span>
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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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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Akerman et al. (1997) and Dolphin et al. (1997) demonstrated that trimethylaminuria is caused by mutation in the FMO3 gene (136132). One individual of British extraction was shown to be homozygous for an E305X mutation (136132.0001) of the FMO3 gene; this person, in addition to trimethylaminuria, had tachycardia and severe hypertension after eating cheese (which contains tyramine) and after using nasal epinephrine following an epistaxis (Danks et al., 1976). The FMO3 enzyme metabolizes tyramine. </p><p>Zschocke et al. (1999) examined the patients of Mayatepek and Kohlmuller (1998) with transient trimethylaminuria and other patients with mild trimethylaminuria and found compound heterozygosity for a missense mutation on one allele and 2 amino acid polymorphisms (E158K, E308G) on the other allele (see, e.g., 136132.0015). Zschocke et al. (1999) found that the variant allele with the 2 polymorphisms occurred in 20% and 6% of German and Turkish controls, respectively. The authors performed standardized TMA challenge tests in the controls with this variant allele and found markedly reduced FMO3 enzyme activity in vivo. </p>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</div>
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<span class="mim-text-font">
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<p>Reports of fish-like odor in people have been found in literature as far back as 1400-1000 B.C. in the Indian epic of the Bharata Dynasty, 'Mahabharata,' by Vyasa (Mitchell, 1996). </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<p class="mim-text-font">
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Akerman, B. R., Chow, L., Forrest, S., Youil, R., Cashman, J., Treacy, E. P.
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<strong>Mutations in the flavin-containing monoxygenase (sic) form 3 (FMO3) gene cause trimethylaminuria, fish odour syndrome. (Abstract)</strong>
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Am. J. Hum. Genet. 61 (suppl.): A53 only, 1997.
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<li>
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<p class="mim-text-font">
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Al-Waiz, M., Ayesh, R., Mitchell, S. C., Idle, J. R., Smith, R. L.
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<strong>Trimethylaminuria (fish-odour syndrome): an inborn error of oxidative metabolism. (Letter)</strong>
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Lancet 329: 634-635, 1987. Note: Originally Volume I.
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[PubMed: 2881174]
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[Full Text: https://doi.org/10.1016/s0140-6736(87)90280-7]
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<p class="mim-text-font">
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Al-Waiz, M., Ayesh, R., Mitchell, S. C., Idle, J. R., Smith, R. L.
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<strong>Trimethylaminuria ('fish-odour syndrome'): a study of an affected family.</strong>
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Clin. Sci. (Lond.) 74: 231-236, 1988.
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[PubMed: 3345632]
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<strong>Trimethylaminuria: the detection of carriers using a trimethylamine load test.</strong>
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Calvert, G. D.
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Danks, D. M., Hammond, J., Faull, K., Burke, D., Halpern, B.
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<strong>Trimethylaminuria: diet does not always control the fishy odor. (Letter)</strong>
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New Eng. J. Med. 295: 962, 1976.
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Dolphin, C. T., Janmohamed, A., Smith, R. L., Shephard, E. A., Phillips, I. R.
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Biochem. Med. 6: 392-396, 1972.
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Humbert, J. R., Hammond, K. B., Hathaway, W. E., Marcoux, J., O'Brien, D.
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<strong>Trimethylaminuria: the fish-odour syndrome. (Letter)</strong>
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Lancet 296: 770-771, 1970.
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[PubMed: 4195988]
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Humbert, J. R., Hammond, K. B., Hathaway, W. E., Marcoux, J., O'Brien, D.
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<strong>The stale-fish syndrome: a new metabolic disorder associated with trimethylaminuria. (Abstract)</strong>
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Pediat. Res. 5: 395 only, 1971.
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Lee, C. W. G., Yu, J. S., Turner, B. B., Murray, K. E.
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<strong>Trimethylaminuria: fishy odors in children.</strong>
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New Eng. J. Med. 295: 937-938, 1976.
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<strong>The fish-odor syndrome.</strong>
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Perspect. Biol. Med. 39: 514-526, 1996.
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Todd, W. A.
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<strong>Psychosocial problems as the major complication of an adolescent with trimethylaminuria.</strong>
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J. Pediat. 94: 936-937, 1979.
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Witt, D. R., McGillivray, B. C., Allanson, J. E., Hughes, H. E., Hathaway, W. E., Zipursky, A., Hall, J. G.
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Zhang, A. Q., Mitchell, S., Smith, R.
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<strong>Fish odour syndrome: verification of carrier detection test.</strong>
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J. Inherit. Metab. Dis. 18: 669-674, 1995.
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Zschocke, J., Kohlmueller, D., Quak, E., Meissner, T., Hoffmann, G. F., Mayatepek, E.
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<strong>Mild trimethylaminuria caused by common variants in FMO3 gene.</strong>
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Lancet 354: 834-835, 1999.
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[PubMed: 10485731]
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