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<title>
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Entry
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- #236800 - HYDROXYKYNURENINURIA
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79155" 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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<div><a href="https://www.alliancegenome.org/disease/DOID:0112257" 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/236800" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0112257" 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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 17820009, 33116002, 72945002<br />
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<strong>ORPHA:</strong> 79155<br />
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<strong>DO:</strong> 0112257<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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236800
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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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HYDROXYKYNURENINURIA
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<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>
|
|
<span class="mim-font">
|
|
XANTHURENIC ACIDURIA<br />
|
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KYNURENINASE DEFICIENCY, PARTIAL
|
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</span>
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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<a id="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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</tr>
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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/2/670?start=-3&limit=10&highlight=670">
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2q22.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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?Hydroxykynureninuria
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
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<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
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</span>
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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/236800"> 236800 </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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KYNU
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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/605197"> 605197 </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 class="btn-group ">
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<a href="/clinicalSynopsis/236800" 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/236800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/236800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> ABDOMEN </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Liver </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- Jaundice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18165001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R17</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2203646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2203646</a>, <a href="https://bioportal.bioontology.org/search?q=C0022346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022346</a>, <a href="https://bioportal.bioontology.org/search?q=C2010848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2010848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span><br />
|
|
|
|
</span>
|
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</div>
|
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</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vomiting in the neonatal period <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677927&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677927</a>]</span><br />
|
|
|
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Xanthurenic aciduria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17820009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17820009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72945002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72945002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33116002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33116002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268474&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268474</a>]</span><br /> -
|
|
Kynureninuria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677928&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677928</a>]</span><br /> -
|
|
Hydroxykynureninuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17820009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17820009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72945002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72945002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33116002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33116002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268474&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268474</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
|
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|
|
- Based on a report of 2 Somali siblings<br />
|
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|
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Caused by mutation in the kynureninase gene (KYNU, <a href="/entry/605197#0001">605197.0001</a>)<br />
|
|
|
|
</span>
|
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</div>
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</div>
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</div>
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|
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that hydroxykynureninuria is caused by homozygous mutation in the KYNU gene (<a href="/entry/605197">605197</a>), which encodes kynureninase, on chromosome 2q22. One such family has been reported.</p>
|
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</span>
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<div>
|
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<br />
|
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</div>
|
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</div>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>Hydroxykynureninuria, also known as xanthurenicaciduria, is an autosomal recessive condition characterized by high urinary excretion of kynurenine (KYN), xanthurenic acid (XA) and 3-hydroxykynurenine (3-OHKYN), with no detectable anthranilic acid (AA) or 3-hydroxyanthranilic acid (3-OHAA) (<a href="#2" class="mim-tip-reference" title="Christensen, M., Duno, M., Lund, A. M., Skovby, F., Christensen, E. <strong>Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.</strong> J. Inherit. Metab. Dis. 30: 248-255, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17334708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17334708</a>] [<a href="https://doi.org/10.1007/s10545-007-0396-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17334708">Christensen et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17334708" 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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</span>
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<div>
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="clinicalFeatures" class="mim-anchor"></a>
|
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Clinical Features</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#4" class="mim-tip-reference" title="Komrower, G. M., Wilson, V., Clamp, J. R., Westall, R. G. <strong>Hydroxykynureninuria: a case of abnormal tryptophane metabolism probably due to a deficiency of kynureninase.</strong> Arch. Dis. Child. 39: 250-256, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14169454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14169454</a>] [<a href="https://doi.org/10.1136/adc.39.205.250" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14169454">Komrower et al. (1964)</a> described a female patient, an only child, who excreted large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid in the urine. Absence of kynureninase resulting in a block in the pathway from tryptophan to nicotinic acid, was postulated. Under these circumstances tryptophan is no longer a source of nicotinic acid and deficiency of the vitamin can develop. The mother excreted 3 to 4 times normal amounts of xanthurenic acid. The father's excretion was at the upper limit of normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14169454" 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="#6" class="mim-tip-reference" title="Tada, K., Yokoyama, Y., Nakagawa, H., Yoshida, T., Arakawa, T. <strong>Vitamin B6 dependent xanthurenic aciduria.</strong> Tohoku J. Exp. Med. 93: 115-124, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5586569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5586569</a>] [<a href="https://doi.org/10.1620/tjem.93.115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5586569">Tada et al. (1967)</a> reported this disorder in a brother and sister with mental retardation. The parents were first cousins. The patients excreted excessive amounts of xanthurenic acid, kynurenic acid, 3-hydroxykynurenine, and kynurenine after tryptophan loading. This disturbance was temporarily corrected by large doses of vitamin B6. The activity of kynureninase in the liver was markedly reduced. The activity was appreciably restored by the addition of pyridoxal phosphate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5586569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 6 of 9 children born of first-cousin Algerian parents, <a href="#1" class="mim-tip-reference" title="Cheminal, R., Echenne, B., Bellet, H., Duran, M. <strong>Congenital non-progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria.</strong> J. Inherit. Metab. Dis. 19: 25-30, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8830173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8830173</a>] [<a href="https://doi.org/10.1007/BF01799345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8830173">Cheminal et al. (1996)</a> found muscular hypertonia, psychomotor retardation, stereotyped gestures, congenital deafness, and nonprogressive encephalopathy. Each of the affected children had episodes of sudden worsening of their neurologic status. These episodes occurred spontaneously or during viral illnesses. At the age of 37 months, one female child had an episode of tachycardia, irregular breathing, and arterial hypotension, leading to coma and death. Two children developed renal tubular dysfunction and renal or metabolic acidosis. The only biochemical abnormality noted in these children was a massive hyperkynureninuria, seen only during periods of coma or after intravenous protein loading. <a href="#1" class="mim-tip-reference" title="Cheminal, R., Echenne, B., Bellet, H., Duran, M. <strong>Congenital non-progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria.</strong> J. Inherit. Metab. Dis. 19: 25-30, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8830173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8830173</a>] [<a href="https://doi.org/10.1007/BF01799345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8830173">Cheminal et al. (1996)</a> suggested that a novel anomaly of tryptophan metabolism occurred in this family because the findings differed from those reported in other families with abnormalities of tryptophan metabolism in which kynureninemia occurred with clinical signs of cerebellar ataxia, developmental retardation, and pellagra (<a href="#4" class="mim-tip-reference" title="Komrower, G. M., Wilson, V., Clamp, J. R., Westall, R. G. <strong>Hydroxykynureninuria: a case of abnormal tryptophane metabolism probably due to a deficiency of kynureninase.</strong> Arch. Dis. Child. 39: 250-256, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14169454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14169454</a>] [<a href="https://doi.org/10.1136/adc.39.205.250" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14169454">Komrower et al., 1964</a>; <a href="#5" class="mim-tip-reference" title="Salih, M. A. M., Bender, D. A., McCreanor, G. M. <strong>Lethal familial pellagra-like skin lesion associated with neurologic and developmental impairment and the development of cataracts.</strong> Pediatrics 76: 787-793, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4058988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4058988</a>]" pmid="4058988">Salih et al., 1985</a>). See <a href="/entry/260650">260650</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14169454+8830173+4058988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Christensen, M., Duno, M., Lund, A. M., Skovby, F., Christensen, E. <strong>Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.</strong> J. Inherit. Metab. Dis. 30: 248-255, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17334708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17334708</a>] [<a href="https://doi.org/10.1007/s10545-007-0396-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17334708">Christensen et al. (2007)</a> reported a patient who presented with jaundice and vomiting at 9 days of age. On routine screening, he was found to have an abnormal metabolite that was eventually identified as xanthurenic acid. The patient recovered, and grew and developed normally, with no issues at follow-up at age 6 years. <a href="#2" class="mim-tip-reference" title="Christensen, M., Duno, M., Lund, A. M., Skovby, F., Christensen, E. <strong>Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.</strong> J. Inherit. Metab. Dis. 30: 248-255, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17334708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17334708</a>] [<a href="https://doi.org/10.1007/s10545-007-0396-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17334708">Christensen et al. (2007)</a> found high excretions of xanthurenic acid, kynurenin, and 3-hydroxykynurenin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17334708" 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>The pattern of transmission of hydroxykynureninuria in the family reported by <a href="#2" class="mim-tip-reference" title="Christensen, M., Duno, M., Lund, A. M., Skovby, F., Christensen, E. <strong>Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.</strong> J. Inherit. Metab. Dis. 30: 248-255, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17334708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17334708</a>] [<a href="https://doi.org/10.1007/s10545-007-0396-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17334708">Christensen et al. (2007)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17334708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a boy with massive excretion of xanthurenic acid, 3-hydroxykynurenin, and kynurenine, <a href="#2" class="mim-tip-reference" title="Christensen, M., Duno, M., Lund, A. M., Skovby, F., Christensen, E. <strong>Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.</strong> J. Inherit. Metab. Dis. 30: 248-255, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17334708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17334708</a>] [<a href="https://doi.org/10.1007/s10545-007-0396-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17334708">Christensen et al. (2007)</a> detected homozygosity for a thr198-to-ala (T198A) mutation in the KYNU gene (<a href="/entry/605197#0001">605197.0001</a>). The homozygous mutation was also present in the boy's brother, who was healthy but had similar excretion of tryptophan metabolites. Both parents and 1 sib were heterozygous for this mutation; 2 remaining sibs did not carry this substitution. The heterozygous sib excreted slightly increased amounts of xanthurenic acid. Urinary excretion and plasma concentrations of tryptophan metabolites were within reference values for other family members. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17334708" 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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Cheminal, R., Echenne, B., Bellet, H., Duran, M.
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<strong>Congenital non-progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria.</strong>
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J. Inherit. Metab. Dis. 19: 25-30, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8830173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8830173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8830173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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J. Inherit. Metab. Dis. 30: 248-255, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17334708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17334708</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17334708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Am. J. Dis. Child. 113: 77-80, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6015911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6015911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6015911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Komrower, G. M., Wilson, V., Clamp, J. R., Westall, R. G.
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<strong>Hydroxykynureninuria: a case of abnormal tryptophane metabolism probably due to a deficiency of kynureninase.</strong>
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Arch. Dis. Child. 39: 250-256, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14169454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14169454</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14169454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Lethal familial pellagra-like skin lesion associated with neurologic and developmental impairment and the development of cataracts.</strong>
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Pediatrics 76: 787-793, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4058988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4058988</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4058988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Tada, K., Yokoyama, Y., Nakagawa, H., Yoshida, T., Arakawa, T.
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<strong>Vitamin B6 dependent xanthurenic aciduria.</strong>
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Tohoku J. Exp. Med. 93: 115-124, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5586569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5586569</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5586569" 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/10.1620/tjem.93.115" 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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Anne M. Stumpf - updated : 03/11/2020
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Ada Hamosh - updated : 11/21/2014<br>Victor A. McKusick - updated : 4/2/1999<br>Moyra Smith - updated : 4/22/1996
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 03/11/2020
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<div class="row collapse" id="mimCollapseEditHistory">
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carol : 09/21/2017<br>carol : 06/21/2016<br>carol : 11/24/2014<br>alopez : 11/21/2014<br>carol : 7/21/2014<br>terry : 4/20/2005<br>joanna : 3/18/2004<br>carol : 8/3/2000<br>carol : 4/2/1999<br>carol : 4/22/1996<br>carol : 4/22/1996<br>carol : 4/22/1996<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>reenie : 6/3/1986
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<h3>
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<span class="mim-font">
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<strong>#</strong> 236800
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<h3>
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HYDROXYKYNURENINURIA
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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XANTHURENIC ACIDURIA<br />
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KYNURENINASE DEFICIENCY, PARTIAL
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<strong>SNOMEDCT:</strong> 17820009, 33116002, 72945002;
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<strong>ORPHA:</strong> 79155;
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<strong>DO:</strong> 0112257;
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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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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<th>
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Location
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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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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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2q22.2
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<span class="mim-font">
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?Hydroxykynureninuria
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<span class="mim-font">
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236800
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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KYNU
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605197
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that hydroxykynureninuria is caused by homozygous mutation in the KYNU gene (605197), which encodes kynureninase, on chromosome 2q22. One such family has been reported.</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hydroxykynureninuria, also known as xanthurenicaciduria, is an autosomal recessive condition characterized by high urinary excretion of kynurenine (KYN), xanthurenic acid (XA) and 3-hydroxykynurenine (3-OHKYN), with no detectable anthranilic acid (AA) or 3-hydroxyanthranilic acid (3-OHAA) (Christensen et al., 2007). </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Komrower et al. (1964) described a female patient, an only child, who excreted large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid in the urine. Absence of kynureninase resulting in a block in the pathway from tryptophan to nicotinic acid, was postulated. Under these circumstances tryptophan is no longer a source of nicotinic acid and deficiency of the vitamin can develop. The mother excreted 3 to 4 times normal amounts of xanthurenic acid. The father's excretion was at the upper limit of normal. </p><p>Tada et al. (1967) reported this disorder in a brother and sister with mental retardation. The parents were first cousins. The patients excreted excessive amounts of xanthurenic acid, kynurenic acid, 3-hydroxykynurenine, and kynurenine after tryptophan loading. This disturbance was temporarily corrected by large doses of vitamin B6. The activity of kynureninase in the liver was markedly reduced. The activity was appreciably restored by the addition of pyridoxal phosphate. </p><p>In 6 of 9 children born of first-cousin Algerian parents, Cheminal et al. (1996) found muscular hypertonia, psychomotor retardation, stereotyped gestures, congenital deafness, and nonprogressive encephalopathy. Each of the affected children had episodes of sudden worsening of their neurologic status. These episodes occurred spontaneously or during viral illnesses. At the age of 37 months, one female child had an episode of tachycardia, irregular breathing, and arterial hypotension, leading to coma and death. Two children developed renal tubular dysfunction and renal or metabolic acidosis. The only biochemical abnormality noted in these children was a massive hyperkynureninuria, seen only during periods of coma or after intravenous protein loading. Cheminal et al. (1996) suggested that a novel anomaly of tryptophan metabolism occurred in this family because the findings differed from those reported in other families with abnormalities of tryptophan metabolism in which kynureninemia occurred with clinical signs of cerebellar ataxia, developmental retardation, and pellagra (Komrower et al., 1964; Salih et al., 1985). See 260650. </p><p>Christensen et al. (2007) reported a patient who presented with jaundice and vomiting at 9 days of age. On routine screening, he was found to have an abnormal metabolite that was eventually identified as xanthurenic acid. The patient recovered, and grew and developed normally, with no issues at follow-up at age 6 years. Christensen et al. (2007) found high excretions of xanthurenic acid, kynurenin, and 3-hydroxykynurenin. </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>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The pattern of transmission of hydroxykynureninuria in the family reported by Christensen et al. (2007) was consistent with autosomal recessive inheritance. </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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</div>
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<span class="mim-text-font">
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<p>In a boy with massive excretion of xanthurenic acid, 3-hydroxykynurenin, and kynurenine, Christensen et al. (2007) detected homozygosity for a thr198-to-ala (T198A) mutation in the KYNU gene (605197.0001). The homozygous mutation was also present in the boy's brother, who was healthy but had similar excretion of tryptophan metabolites. Both parents and 1 sib were heterozygous for this mutation; 2 remaining sibs did not carry this substitution. The heterozygous sib excreted slightly increased amounts of xanthurenic acid. Urinary excretion and plasma concentrations of tryptophan metabolites were within reference values for other family members. </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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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Komrower and Westall (1967)
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Cheminal, R., Echenne, B., Bellet, H., Duran, M.
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<strong>Congenital non-progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria.</strong>
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J. Inherit. Metab. Dis. 19: 25-30, 1996.
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[PubMed: 8830173]
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[Full Text: https://doi.org/10.1007/BF01799345]
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</li>
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<li>
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<p class="mim-text-font">
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Christensen, M., Duno, M., Lund, A. M., Skovby, F., Christensen, E.
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<strong>Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.</strong>
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J. Inherit. Metab. Dis. 30: 248-255, 2007.
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[PubMed: 17334708]
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[Full Text: https://doi.org/10.1007/s10545-007-0396-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Komrower, G. M., Westall, R.
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<strong>Hydroxykynureninuria.</strong>
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Am. J. Dis. Child. 113: 77-80, 1967.
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[PubMed: 6015911]
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[Full Text: https://doi.org/10.1001/archpedi.1967.02090160127016]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Komrower, G. M., Wilson, V., Clamp, J. R., Westall, R. G.
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<strong>Hydroxykynureninuria: a case of abnormal tryptophane metabolism probably due to a deficiency of kynureninase.</strong>
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Arch. Dis. Child. 39: 250-256, 1964.
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[PubMed: 14169454]
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[Full Text: https://doi.org/10.1136/adc.39.205.250]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Salih, M. A. M., Bender, D. A., McCreanor, G. M.
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<strong>Lethal familial pellagra-like skin lesion associated with neurologic and developmental impairment and the development of cataracts.</strong>
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Pediatrics 76: 787-793, 1985.
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[PubMed: 4058988]
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<li>
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<p class="mim-text-font">
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Tada, K., Yokoyama, Y., Nakagawa, H., Yoshida, T., Arakawa, T.
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<strong>Vitamin B6 dependent xanthurenic aciduria.</strong>
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Tohoku J. Exp. Med. 93: 115-124, 1967.
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[PubMed: 5586569]
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[Full Text: https://doi.org/10.1620/tjem.93.115]
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</li>
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</ol>
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<div>
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<br />
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 03/11/2020<br>Ada Hamosh - updated : 11/21/2014<br>Victor A. McKusick - updated : 4/2/1999<br>Moyra Smith - updated : 4/22/1996
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</span>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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</span>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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alopez : 03/11/2020<br>carol : 09/21/2017<br>carol : 06/21/2016<br>carol : 11/24/2014<br>alopez : 11/21/2014<br>carol : 7/21/2014<br>terry : 4/20/2005<br>joanna : 3/18/2004<br>carol : 8/3/2000<br>carol : 4/2/1999<br>carol : 4/22/1996<br>carol : 4/22/1996<br>carol : 4/22/1996<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>reenie : 6/3/1986
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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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<br />
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