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Entry
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- #614723 - ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD
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- OMIM
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<p>
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<span class="h4">#614723</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/614723"><strong>Clinical Synopsis</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="#biochemicalFeatures">Biochemical Features</a>
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<a href="#diagnosis">Diagnosis</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="#populationGenetics">Population Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=775&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/NBK100238/" 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://medlineplus.gov/genetics/condition/adenine-phosphoribosyltransferase-deficiency" 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=614723[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=976" 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 style="display: table-cell;">Animal Models</div>
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</a>
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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:0060350" 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/614723" 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:0060350" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 124274002<br />
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<strong>ORPHA:</strong> 976<br />
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<strong>DO:</strong> 0060350<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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614723
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</span>
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</span>
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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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ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<a id="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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APRT DEFICIENCY<br />
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UROLITHIASIS, 2,8-DIHYDROXYADENINE<br />
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UROLITHIASIS, DHA<br />
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NEPHROLITHIASIS, DHA
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
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<a href="/geneMap/16/738?start=-3&limit=10&highlight=738">
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16q24.3
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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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Adenine phosphoribosyltransferase deficiency
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/614723"> 614723 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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APRT
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<span class="mim-font">
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<a href="/entry/102600"> 102600 </a>
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<a href="/clinicalSynopsis/614723" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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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/614723" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/614723" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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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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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
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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 class="h5 mim-font">
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<strong> GENITOURINARY </strong>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
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<em> Kidneys </em>
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<div style="margin-left: 2em;">
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- Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br />
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<div>
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<span class="h5 mim-font">
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<em> Ureters </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Urolithiasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95566004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95566004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N20-N23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N20-N23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0451641&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0451641</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034368</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034368</a>]</span><br />
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- APRT deficiency measured in erythrocyte lysate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863288&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863288</a>]</span><br /> -
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2,8-dihydroxyadenine (DHA) urinary stones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863289&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863289</a>]</span><br /> -
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Round, yellow-brown DHA urine crystals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863290&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863290</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Type I patients have undetectable APRT activity and are homozygous or compound heterozygous for null alleles<br /> -
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Type II patients are usually Japanese and have significant APRT activity (10-25%)<br /> -
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Approximately 85% of type II patients are homozygous for a missense mutation M136T (<a href="/entry/102600#0003">102600.0003</a>)<br />
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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<span class="mim-font">
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- Caused by mutation in the adenine phosphoribosyltransferase gene (APRT, <a href="/entry/102600#0001">102600.0001</a>)<br />
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</h4>
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<p>A number sign (#) is used with this entry because adenine phosphoribosyltransferase deficiency (APRTD) is caused by homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT; <a href="/entry/102600">102600</a>) on chromosome 16q24.</p>
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<br />
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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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<p>APRT deficiency is an autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the kidney, which results in crystalluria and the formation of urinary stones. Clinical features include renal colic, hematuria, urinary tract infection, dysuria, and, in some cases, renal failure. The age at onset can range from 5 months to late adulthood; however, as many as 50% of APRT-deficient individuals may be asymptomatic (summary by <a href="#37" class="mim-tip-reference" title="Sahota, A. S., Tischfield, J. A., Kamatani, N., Simmonds, H. A. <strong>Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis.: In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 2571-2583."None>Sahota et al., 2001</a>).</p><p>Two types of APRT deficiency have been described based on the level of residual enzyme activity in in vitro studies of erythrocytes. Type I deficiency is characterized by complete enzyme deficiency in intact cells and in cell lysates, whereas type II deficiency is characterized by complete enzyme deficiency in intact cells, but only a partial deficiency in cell lysates. Type II alleles show reduced affinity for phosphoribosyl pyrophosphate (PRPP) compared to wildtype. In both types, APRT activity is not functional in vivo. Type II deficiency is most common among Japanese. Heterozygotes of either type do not appear to have any clinical or biochemical abnormalities (summary by <a href="#37" class="mim-tip-reference" title="Sahota, A. S., Tischfield, J. A., Kamatani, N., Simmonds, H. A. <strong>Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis.: In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 2571-2583."None>Sahota et al., 2001</a>).</p>
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<strong>Clinical Features</strong>
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<p>Mutant forms of adenine phosphoribosyltransferase were described by <a href="#25" class="mim-tip-reference" title="Kelley, W. N., Levy, R. I., Rosenbloom, F. M., Henderson, J. F., Seegmiller, J. E. <strong>Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man.</strong> J. Clin. Invest. 47: 2281-2289, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5676523/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5676523</a>] [<a href="https://doi.org/10.1172/JCI105913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5676523">Kelley et al. (1968)</a> and by <a href="#15" class="mim-tip-reference" title="Henderson, J. F., Kelley, W. N., Rosenbloom, F. M., Seegmiller, J. E. <strong>Inheritance of purine phosphoribosyltransferases in man.</strong> Am. J. Hum. Genet. 21: 61-70, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5763607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5763607</a>]" pmid="5763607">Henderson et al. (1969)</a> who found the inheritance to be autosomal. The heat-stable enzyme allele has a frequency of about 15% and the heat-labile enzyme allele a frequency of about 85%. <a href="#25" class="mim-tip-reference" title="Kelley, W. N., Levy, R. I., Rosenbloom, F. M., Henderson, J. F., Seegmiller, J. E. <strong>Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man.</strong> J. Clin. Invest. 47: 2281-2289, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5676523/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5676523</a>] [<a href="https://doi.org/10.1172/JCI105913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5676523">Kelley et al. (1968)</a> found apparent heterozygosity in 4 persons in 3 generations of a family. However, the level of enzyme activity in heterozygotes ranged from 21 to 37%, not 50%. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5763607+5676523" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Fox, I. H., Meade, J. C., Kelley, W. N. <strong>Adenine phosphoribosyltransferase deficiency in man: report of a second family.</strong> Am. J. Med. 55: 614-619, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4749203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4749203</a>] [<a href="https://doi.org/10.1016/0002-9343(73)90183-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4749203">Fox et al. (1973)</a> described a family with partial deficiency of red cell APRT, consistent with a heterozygous state, although enzyme activity was less than 50%. The partial deficiency of erythrocyte APRT was not associated with any detectable abnormality in purine metabolism. The proband had a normal concentration of PRPP and ATP in erythrocytes, a normal availability of purine nucleotides, a normal rate of purine biosynthesis de novo, a normal excretion of uric acid, and a normal response to adenine administration. Although the proband had both hyperuricemia and reduced erythrocyte APRT activity, these 2 traits segregated independently in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4749203" 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="Delbarre, F., Auscher, C., Amor, B., de Gery, A., Cartier, P., Hamet, M. <strong>Gout with adenine phosphoribosyltransferase deficiency.</strong> Biomedicine 21: 82-85, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4852180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4852180</a>]" pmid="4852180">Delbarre et al. (1974)</a> found deficiency of APRT in persons with gout but recognized that purine overproduction was not necessarily caused by the APRT deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4852180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Emmerson, B. T., Gordon, R. B., Thompson, L. <strong>Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease.</strong> Aust. New Zeal. J. Med. 5: 440-446, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1061547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1061547</a>] [<a href="https://doi.org/10.1111/j.1445-5994.1975.tb03054.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1061547">Emmerson et al. (1975)</a> described a family with autosomal inheritance of APRT deficiency. The proband was a 24-year-old woman who had suffered from recurrent gouty arthritis since the age of 11 years. She also demonstrated considerable, although asymptomatic, renal impairment with a creatinine clearance of one-third normal. Eleven other asymptomatic members of the family also demonstrated a similar reduction in APRT activity in erythrocyte lysates. The partially purified APRT enzyme in the proband showed no difference in Michaelis constants, heat stability, or electrophoresis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1061547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Debray, H., Cartier, P., Temstet, A., Cendron, J. <strong>Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyl transferase.</strong> Pediat. Res. 10: 762-766, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7766</a>] [<a href="https://doi.org/10.1203/00006450-197608000-00014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7766">Debray et al. (1976)</a> observed a child with urolithiasis and complete deficiency of APRT. Both parents had partial deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7766" 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="#43" class="mim-tip-reference" title="Van Acker, K. J., Simmonds, H. A., Potter, C., Cameron, J. S. <strong>Complete deficiency of adenine phosphoribosyltransferase: report of a family.</strong> New Eng. J. Med. 297: 127-132, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/865583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">865583</a>] [<a href="https://doi.org/10.1056/NEJM197707212970302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="865583">Van Acker et al. (1977)</a> described brothers with complete deficiency of APRT. They were detected because one of them had from birth excreted gravel consisting of stones of 2,8-dihydroxyadenine in urine. Neither showed hyperuricemia or gout. Treatment with allopurinol and a low purine diet stopped stone formation. The authors concluded that homozygotes can be detected by raised urinary adenine levels and absence of detectable red cell APRT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=865583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Barratt, T. M., Simmonds, H. A., Cameron, J. S., Potter, C. F., Rose, G. A., Arkell, D. G., Williams, D. I. <strong>Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.</strong> Arch. Dis. Child. 54: 25-31, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/420519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">420519</a>] [<a href="https://doi.org/10.1136/adc.54.1.25" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="420519">Barratt et al. (1979)</a> reported a child, born of consanguineous Arab parents, who had 2,8-dihydroxyadenine stones resulting from a complete lack of APRT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=420519" 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="Gault, M. H., Simmonds, H. A., Snedden, W., Dow, D., Churchill, D. N., Penney, H. <strong>Urolithiasis due to 2,8-dihydroxyadenine in an adult.</strong> New Eng. J. Med. 305: 1570-1572, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7311997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7311997</a>] [<a href="https://doi.org/10.1056/NEJM198112243052608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7311997">Gault et al. (1981)</a> described 2,8-dihydroxyadenine urolithiasis in a white woman who lived in Newfoundland and first developed symptoms of urolithiasis at the age of 42. The authors noted that the use of infrared or x-ray diffraction analysis of calculi positive for uric acid with standard wet chemical tests can make the diagnosis. Affected adults may first present with renal failure. Renal biopsy shows changes similar to those of uric acid nephropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7311997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Kishi, T., Kidani, K., Komazawa, Y., Sakura, N., Matsuura, R., Kobayashi, M., Tanabe, A., Hyodo, S., Kittaka, E., Sakano, T., Tanaka, Y., Kobayashi, Y., Nakamoto, T., Nakatsu, H., Moriyama, H., Hayashi, M., Nihira, H., Usui, T. <strong>Complete deficiency of adenine phosphoribosyltransferase: a report of three cases and immunologic and phagocytic investigations.</strong> Pediat. Res. 18: 30-34, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6701033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6701033</a>]" pmid="6701033">Kishi et al. (1984)</a> found only 10 reported cases of complete deficiency of APRT, beginning with the case of <a href="#2" class="mim-tip-reference" title="Cartier, P., Hamet, M., Hamburger, J. <strong>Une nouvelle maladie metabolique: le deficit complet en adenine phosphoribosyltransferase avec lithiase de 2,8-dihydroxyadenine.</strong> C. R. Acad. Hebd. Seances Acad. Sci. D 279: 883-886, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4219298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4219298</a>]" pmid="4219298">Cartier et al. (1974)</a>. <a href="#26" class="mim-tip-reference" title="Kishi, T., Kidani, K., Komazawa, Y., Sakura, N., Matsuura, R., Kobayashi, M., Tanabe, A., Hyodo, S., Kittaka, E., Sakano, T., Tanaka, Y., Kobayashi, Y., Nakamoto, T., Nakatsu, H., Moriyama, H., Hayashi, M., Nihira, H., Usui, T. <strong>Complete deficiency of adenine phosphoribosyltransferase: a report of three cases and immunologic and phagocytic investigations.</strong> Pediat. Res. 18: 30-34, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6701033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6701033</a>]" pmid="6701033">Kishi et al. (1984)</a> reported 3 cases in 2 families. Although APRT deficiency occurred in mononuclear cells and polymorphonuclear leukocytes as well as in red cells, no abnormality of immunologic or phagocytic function was detected. The sole clinical manifestation was urinary calculi composed of 2,8-DHA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4219298+6701033" 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="#31" class="mim-tip-reference" title="Manyak, M. J., Frensilli, F. J., Miller, H. C. <strong>2,8-Dihydroxyadenine urolithiasis: report of an adult case in the United States.</strong> J. Urol. 137: 312-314, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3806829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3806829</a>] [<a href="https://doi.org/10.1016/s0022-5347(17)43993-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3806829">Manyak et al. (1987)</a> found DHA-urolithiasis in a 50-year-old white woman who was homozygous for APRT deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3806829" 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="Glicklich, D., Gruber, H. E., Matas, A. J., Tellis, V. A., Karwa, G., Finley, K., Salem, C., Soberman, R., Seegmiller, J. E. <strong>2,8-Dihydroxyadenine urolithiasis: report of a case first diagnosed after renal transplant.</strong> Quart. J. Med. (N.S.) 69: 785-793, 1988."None>Glicklich et al. (1988)</a> reported the second case of homozygous APRT deficiency from the United States. The disorder was recognized 23 years after the patient, a black woman from Bermuda, had her initial episode of renal colic, and after 2,8-dihydroxyadenine stones had recurred after renal transplant.</p><p><strong><em>APRT Deficiency in Japanese</em></strong></p><p>
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<a href="#24" class="mim-tip-reference" title="Kamatani, N., Terai, C., Kuroshima, S., Nishioka, K., Mikanagi, K. <strong>Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.</strong> Hum. Genet. 75: 163-168, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3817810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3817810</a>] [<a href="https://doi.org/10.1007/BF00591080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3817810">Kamatani et al. (1987)</a> examined samples from 19 Japanese families with DHA-urolithiasis. In 15 (79%) of the 19 families, the patients had only partial APRT deficiency, which contrasted with complete deficiency reported in all non-Japanese patients. All Japanese patients with DHA-urolithiasis were homozygotes regardless of whether the deficiency was complete or partial. However, family studies revealed 4 asymptomatic homozygous family members. The segregation pattern was consistent with an autosomal recessive mode of inheritance. <a href="#24" class="mim-tip-reference" title="Kamatani, N., Terai, C., Kuroshima, S., Nishioka, K., Mikanagi, K. <strong>Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.</strong> Hum. Genet. 75: 163-168, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3817810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3817810</a>] [<a href="https://doi.org/10.1007/BF00591080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3817810">Kamatani et al. (1987)</a> estimated that about 1% of the Japanese population are carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3817810" 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="#34" class="mim-tip-reference" title="Rappaport, H., DeMars, R. <strong>Diaminopurine-resistant mutants of cultured, diploid human fibroblasts.</strong> Genetics 75: 335-345, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4358687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4358687</a>] [<a href="https://doi.org/10.1093/genetics/75.2.335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4358687">Rappaport and DeMars (1973)</a> identified clones of cells resistant to 2,6-diaminopurine (DAP) in skin fibroblast cultures derived from 13 of 21 normal humans. In some of the mutant cultures adenine phosphoribosyltransferase was normal. Two mutants from unrelated boys had little or no detectable APRT activity, and resistance to DAP resulted from reduced ability to convert DAP to its toxic ribonucleotide via APRT. The authors reasoned that mutant-yielding cultures were heterozygous to begin with, and suggested that DAP resistance has a heterozygote frequency as high as 0.2. This contrasted with the very low frequency of electrophoretic variants of APRT. There may be other mechanisms for DAP-resistance: for example, azaguanine resistance is determined by mutation at the X-linked HPRT locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4358687" 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="#29" class="mim-tip-reference" title="Maddocks, J. L., Al-Safi, S. A. <strong>Adenine phosphoribosyltransferase deficiency: a simple diagnostic test.</strong> Clin. Sci. (Lond.) 75: 217-220, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3409638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3409638</a>] [<a href="https://doi.org/10.1042/cs0750217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3409638">Maddocks and Al-Safi (1988)</a> used identification of adenine in the urine by thin-layer chromatography to diagnose APRT deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3409638" 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="#38" class="mim-tip-reference" title="Simmonds, H. A., Van Acker, K. J., Sahota, A. S. <strong>2,8-Dihydroxyadenine urolithiasis. (Letter)</strong> Lancet 339: 1295-1296, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1349687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1349687</a>] [<a href="https://doi.org/10.1016/0140-6736(92)91623-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1349687">Simmonds et al. (1992)</a> pointed out that patients who are mistakenly diagnosed as having uric acid lithiasis will be treated successfully with allopurinol despite the incorrect diagnosis. This may be responsible for underdiagnosis of the disorder. Families carrying the mutant APRT gene need to be aware of it since acute renal failure may be the presenting symptom and this may be reversible, though some patients progress to chronic renal failure requiring dialysis and transplantation. <a href="#30" class="mim-tip-reference" title="Maddocks, J. L. <strong>2,8-Dihydroxyadenine urolithiasis. (Letter)</strong> Lancet 339: 1296 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1349689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1349689</a>]" pmid="1349689">Maddocks (1992)</a> described a simple test for distinguishing uric acid calculi from 2,8-DHA calculi. <a href="#45" class="mim-tip-reference" title="Ward, I. D., Addison, G. M. <strong>2,8-Dihydroxyadenine urolithiasis. (Letter)</strong> Lancet 339: 1296, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1349690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1349690</a>]" pmid="1349690">Ward and Addison (1992)</a> indicated that even visual examination can distinguish the two: 2,8-DHA stones are reddish-brown when wet and grayish when dry; they are also very soft and friable. Stones composed mainly of uric acid are very rare in children. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1349687+1349690+1349689" 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="#27" class="mim-tip-reference" title="Laxdal, T., Jonasson, T. A. <strong>Adenine phosphoribosyltransferase deficiency in Iceland.</strong> Acta Med. Scand. 224: 621-626, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3207073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3207073</a>] [<a href="https://doi.org/10.1111/j.0954-6820.1988.tb19635.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3207073">Laxdal and Jonasson (1988)</a> found 2 children and 2 adults in 4 unrelated families with 2,8-dihydroxyadenine crystalluria. They suggested that the presence of round, brownish urine crystals, even without radiolucent kidney stones, should alert the physician to the diagnosis. Thirteen heterozygotes were identified by study of the families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3207073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Laxdal, T. <strong>2,8-Dihydroxyadenine crystalluria vs urolithiasis. (Letter)</strong> Lancet 340: 184 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1352601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1352601</a>] [<a href="https://doi.org/10.1016/0140-6736(92)93270-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1352601">Laxdal (1992)</a> pointed out that Iceland contributed 8 of the 62 APRT-deficient type I homozygotes. The 8 cases were from 8 different families. Although remote ancestral connections were identified, all 8 cases were detected by the finding of typical round reddish-brown crystals in the urine on light microscopy. The importance of alert laboratory technicians in making the diagnosis was emphasized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1352601" 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="#42" class="mim-tip-reference" title="Terai, C., Hakoda, M., Yamanaka, H., Kamatani, N., Okai, M., Takahashi, F., Kashiwazaki, S. <strong>Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation.</strong> Clin. Genet. 48: 246-250, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8825602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8825602</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04098.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8825602">Terai et al. (1995)</a> detected homozygous APRT deficiency by the finding of 2,8-dihydroxyadenine-like spherical crystals in the urinary sediment. The molecular diagnosis was established using PCR-SSCP with the demonstration of the APRT*J allele (<a href="/entry/102600#0003">102600.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8825602" 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>APRT deficiency is usually inherited in an autosomal recessive pattern (<a href="#24" class="mim-tip-reference" title="Kamatani, N., Terai, C., Kuroshima, S., Nishioka, K., Mikanagi, K. <strong>Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.</strong> Hum. Genet. 75: 163-168, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3817810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3817810</a>] [<a href="https://doi.org/10.1007/BF00591080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3817810">Kamatani et al., 1987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3817810" 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="Ishidate, T., Igarashi, S., Kamatani, N. <strong>Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency.</strong> J. Pediat. 118: 90-91, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1986109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1986109</a>] [<a href="https://doi.org/10.1016/s0022-3476(05)81854-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1986109">Ishidate et al. (1991)</a> reported father and daughter with DHA-urolithiasis. The father and his wife were first cousins; thus, this was an example of pseudodominance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1986109" 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 lymphoblastoid cell line from a Caucasian patient in Belgium with complete APRT deficiency, <a href="#16" class="mim-tip-reference" title="Hidaka, Y., Palella, T. D., O'Toole, T. E., Tarle, S. A., Kelley, W. N. <strong>Human adenine phosphoribosyltransferase: identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.</strong> J. Clin. Invest. 80: 1409-1415, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3680503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3680503</a>] [<a href="https://doi.org/10.1172/JCI113219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3680503">Hidaka et al. (1987)</a> identified compound heterozygosity for 2 mutations in the APRT gene (<a href="/entry/102600#0001">102600.0001</a> and <a href="/entry/102600#0002">102600.0002</a>). <a href="#11" class="mim-tip-reference" title="Gathof, B. S., Sahota, A., Gresser, U., Chen, J., Stambrook, P. J., Tischfield, J. A., Zollner, N. <strong>Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family.</strong> Klin. Wochenschr. 69: 1152-1155, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2135300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2135300</a>] [<a href="https://doi.org/10.1007/BF01815434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2135300">Gathof et al. (1991)</a> identified homozygosity for an APRT mutation (<a href="/entry/102600#0002">102600.0002</a>) in identical twin brothers born to nonconsanguineous German parents with APRT deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2135300+3680503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 patients from Iceland with complete APRT deficiency, <a href="#3" class="mim-tip-reference" title="Chen, J., Sahota, A., Laxdal, T., Stambrook, P. J., Tischfield, J. A. <strong>Demonstration of a common mutation at the adenine phosphoribosyltransferase (APRT) locus in the Icelandic population. (Abstract)</strong> Am. J. Hum. Genet. 47 (suppl.): A152 only, 1990."None>Chen et al. (1990)</a> identified a homozygous mutation in the APRT gene (D65V; <a href="/entry/102600#0004">102600.0004</a>).</p><p>In Japanese, partial deficiency of APRT leads to 2,8-dihydroxyadenine urolithiasis (type II), whereas all Caucasian patients with 2,8-DHA urolithiasis have been completely deficient (type I). <a href="#10" class="mim-tip-reference" title="Fujimori, S., Akaoka, I., Sakamoto, K., Yamanaka, H., Nishioka, K., Kamatani, N. <strong>Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.</strong> Hum. Genet. 71: 171-176, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3876264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3876264</a>] [<a href="https://doi.org/10.1007/BF00283377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3876264">Fujimori et al. (1985)</a> found that partially purified enzyme from Japanese families has a reduced affinity for phosphoribosylpyrophosphate (PRPP), as well as increased resistance to heat and reduced sensitivity to the stabilizing effect of PRPP. They referred to this common Japanese mutant allele as APRT*J. In Japanese patients with APRT deficiency, <a href="#17" class="mim-tip-reference" title="Hidaka, Y., Tarle, S. A., Fujimori, S., Kamatani, N., Kelley, W. N., Palella, T. D. <strong>Human adenine phosphoribosyltransferase deficiency: demonstration of a single mutant allele common to the Japanese.</strong> J. Clin. Invest. 81: 945-950, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3343350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3343350</a>] [<a href="https://doi.org/10.1172/JCI113408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3343350">Hidaka et al. (1988)</a> identified the molecular basis for the APRT*J allele: an M136T (<a href="/entry/102600#0003">102600.0003</a>) substitution in the putative PRPP-binding site. The mutant enzyme showed abnormal kinetics and activity that was less than 10.3% of normal. By a specific cleavage method using cyanogen bromide (BrCN) to identify the M136T allele, <a href="#21" class="mim-tip-reference" title="Kamatani, N., Kuroshima, S., Terai, C., Hidaka, Y., Palella, T. D., Nishioka, K. <strong>Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.</strong> Am. J. Hum. Genet. 45: 325-331, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2502918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2502918</a>]" pmid="2502918">Kamatani et al. (1989)</a> found that 79% of all Japanese patients with APRT deficiency and more than half of the world's patients have this particular mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2502918+3876264+3343350" 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="#23" class="mim-tip-reference" title="Kamatani, N., Kuroshima, S., Yamanaka, H., Nakashe, S., Take, H., Hakoda, M. <strong>Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis.</strong> Hum. Genet. 85: 500-504, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2227934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2227934</a>] [<a href="https://doi.org/10.1007/BF00194224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2227934">Kamatani et al. (1990)</a> reported a 2-year-old Japanese boy with DHA urolithiasis due to compound heterozygosity for a null APRT allele (APRT*Q0) and the APRT*J allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2227934" 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 2 sisters from Newfoundland with APRT deficiency, <a href="#36" class="mim-tip-reference" title="Sahota, A., Chen, J., Boyadijev, S. A., Gault, M. H., Tischfield, J. A. <strong>Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.</strong> Hum. Molec. Genet. 3: 817-818, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7915931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7915931</a>] [<a href="https://doi.org/10.1093/hmg/3.5.817" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7915931">Sahota et al. (1994)</a> identified a homozygous mutation in the APRT gene (L110P; <a href="/entry/102600#0007">102600.0007</a>). One of the sisters exhibited 2,8-dihydroxyadenine urolithiasis, whereas the other was disease-free. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7915931" 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="#20" class="mim-tip-reference" title="Kamatani, N., Hakoda, M., Otsuka, S., Yoshikawa, H., Kashiwazaki, S. <strong>Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.</strong> J. Clin. Invest. 90: 130-135, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353080</a>] [<a href="https://doi.org/10.1172/JCI115825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1353080">Kamatani et al. (1992)</a> stated that about 70 Japanese families with homozygous APRT deficiency have been reported, whereas the number of reported non-Japanese families is about 36. The estimated gene frequency among Japanese is about 1.2%. <a href="#20" class="mim-tip-reference" title="Kamatani, N., Hakoda, M., Otsuka, S., Yoshikawa, H., Kashiwazaki, S. <strong>Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.</strong> J. Clin. Invest. 90: 130-135, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353080</a>] [<a href="https://doi.org/10.1172/JCI115825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1353080">Kamatani et al. (1992)</a> found that most APRT-deficient Japanese patients carry 1 of 3 mutant alleles. Among 141 defective APRT alleles from 72 different Japanese families, 96 (68%) carried the M136T mutation (<a href="/entry/102600#0003">102600.0003</a>). Thirty (21%) and 10 (7%) alleles had the TGG-to-TGA nonsense mutation at codon 98 (<a href="/entry/102600#0005">102600.0005</a>) and duplication of a 4-bp sequence in exon 3 (<a href="/entry/102600#0006">102600.0006</a>), respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1353080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Doppler1981" class="mim-tip-reference" title="Doppler, W., Hirsch-Kauffmann, M., Schabel, F., Schweiger, M. <strong>Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT).</strong> Hum. Genet. 57: 404-410, 1981.">Doppler et al. (1981)</a>; <a href="#Fox1977" class="mim-tip-reference" title="Fox, I. H., Lacroix, S., Planet, G., Moore, M. <strong>Partial deficiency of adenine phosphoribosyltransferase in man.</strong> Medicine 56: 515-526, 1977.">Fox et al. (1977)</a>; <a href="#Hakoda1991" class="mim-tip-reference" title="Hakoda, M., Yamanaka, H., Kamatani, N., Kamatani, N. <strong>Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: application to screening of heterozygotes.</strong> Am. J. Hum. Genet. 48: 552-562, 1991.">Hakoda et al. (1991)</a>; <a href="#Hirsch-Kauffmann1981" class="mim-tip-reference" title="Hirsch-Kauffmann, M., Doppler, W. <strong>Biochemical studies on a patient with complete APRT-deficiency. (Abstract)</strong> Sixth International Congress of Human Genetics, Jerusalem 1981. P. 96.">Hirsch-Kauffmann and Doppler (1981)</a>; <a href="#Kamatani1987" class="mim-tip-reference" title="Kamatani, N., Terai, C., Kuroshima, S., Nishioka, K., Mikanagi, K. <strong>Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.</strong> Hum. Genet. 75: 163-168, 1987.">Kamatani et al. (1987)</a>; <a href="#Menardi1997" class="mim-tip-reference" title="Menardi, C., Schneider, R., Neuschmid-Kaspar, F., Klocker, H., Hirsch-Kauffmann, M., Auer, B., Schweiger, M. <strong>Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.</strong> Hum. Mutat. 10: 251-255, 1997.">Menardi
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et al. (1997)</a>; <a href="#Mimori1991" class="mim-tip-reference" title="Mimori, A., Hidaka, Y., Wu, V. C., Tarle, S. A., Kamatani, N., Kelley, W. N., Pallela, T. D. <strong>A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.</strong> Am. J. Hum. Genet. 48: 103-107, 1991.">Mimori et al. (1991)</a>; <a href="#Sahota1991" class="mim-tip-reference" title="Sahota, A., Chen, J., Behzadian, M. A., Ravindra, R., Takeuchi, H., Stambrook, P. J., Tischfield, J. A. <strong>2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.</strong> Am. J. Hum. Genet. 48: 983-989, 1991.">Sahota et al. (1991)</a>; <a href="#Simmonds1979" class="mim-tip-reference" title="Simmonds, H. A. <strong>2,8-Dihydroxyadeninuria--or when is a uric acid stone not a uric acid stone?</strong> Clin. Nephrol. 12: 195-197, 1979.">Simmonds
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(1979)</a>; <a href="#Takeuchi1985" class="mim-tip-reference" title="Takeuchi, F., Matsuta, K., Miyamoto, T., Enomoto, S., Fujimori, S., Akaoka, I., Kamatani, N., Nishioka, K. <strong>Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.</strong> Hum. Genet. 71: 167-170, 1985.">Takeuchi et al. (1985)</a>; <a href="#Taniguchi1998" class="mim-tip-reference" title="Taniguchi, A., Hakoda, M., Yamanaka, H., Terai, C., Hikiji, K., Kawaguchi, R., Konishi, N., Kashiwazaki, S., Kamatani, N. <strong>A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein.</strong> Hum. Genet. 102: 197-202, 1998.">Taniguchi et al. (1998)</a>; <a href="#Wang1999" class="mim-tip-reference" title="Wang, L., Ou, X., Sebesta, I., Vondrak, K., Krijt, J., Elleder, M., Poupetova, H., Ledvinova, J., Zeman, J., Simmonds, H. A., Tischfield, J. A., Sahota, A. <strong>Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.</strong> Molec. Genet. Metab. 68: 78-85, 1999.">Wang et al.
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[<a href="https://doi.org/10.1136/adc.54.1.25" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1203/00006450-197608000-00014" target="_blank">Full Text</a>]
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<strong>Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT).</strong>
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[<a href="https://doi.org/10.1007/BF00281694" target="_blank">Full Text</a>]
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<strong>Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease.</strong>
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[<a href="https://doi.org/10.1111/j.1445-5994.1975.tb03054.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00005792-197711000-00006" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(73)90183-6" target="_blank">Full Text</a>]
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<strong>Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.</strong>
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[<a href="https://doi.org/10.1007/BF00283377" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01815434" target="_blank">Full Text</a>]
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<strong>Urolithiasis due to 2,8-dihydroxyadenine in an adult.</strong>
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[<a href="https://doi.org/10.1056/NEJM198112243052608" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI113219" target="_blank">Full Text</a>]
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<strong>Human adenine phosphoribosyltransferase deficiency: demonstration of a single mutant allele common to the Japanese.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3343350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3343350</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3343350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI113408" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(05)81854-2" target="_blank">Full Text</a>]
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Kamatani, N., Hakoda, M., Otsuka, S., Yoshikawa, H., Kashiwazaki, S.
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<strong>Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.</strong>
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[<a href="https://doi.org/10.1172/JCI115825" target="_blank">Full Text</a>]
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<strong>Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.</strong>
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Kamatani, N., Kuroshima, S., Terai, C., Kawai, K., Mikanagi, K., Nishioka, K.
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<strong>Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants): application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency.</strong>
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[<a href="https://doi.org/10.1007/BF00284912" target="_blank">Full Text</a>]
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<strong>Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis.</strong>
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[<a href="https://doi.org/10.1007/BF00194224" target="_blank">Full Text</a>]
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<strong>Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.</strong>
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[<a href="https://doi.org/10.1007/BF00591080" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI105913" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.0954-6820.1988.tb19635.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0140-6736(92)93270-w" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1042/cs0750217" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-5347(17)43993-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:3<251::AID-HUMU15>3.0.CO;2-Z" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/genetics/75.2.335" target="_blank">Full Text</a>]
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Simmonds, H. A., Van Acker, K. J., Sahota, A. S.
|
|
<strong>2,8-Dihydroxyadenine urolithiasis. (Letter)</strong>
|
|
Lancet 339: 1295-1296, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1349687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1349687</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1349687" 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/10.1016/0140-6736(92)91623-g" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="39" class="mim-anchor"></a>
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<a id="Simmonds1979" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Simmonds, H. A.
|
|
<strong>2,8-Dihydroxyadeninuria--or when is a uric acid stone not a uric acid stone?</strong>
|
|
Clin. Nephrol. 12: 195-197, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/389507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">389507</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=389507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="40" class="mim-anchor"></a>
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<a id="Takeuchi1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Takeuchi, F., Matsuta, K., Miyamoto, T., Enomoto, S., Fujimori, S., Akaoka, I., Kamatani, N., Nishioka, K.
|
|
<strong>Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.</strong>
|
|
Hum. Genet. 71: 167-170, 1985.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4043967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4043967</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4043967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00283376" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="41" class="mim-anchor"></a>
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<a id="Taniguchi1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Taniguchi, A., Hakoda, M., Yamanaka, H., Terai, C., Hikiji, K., Kawaguchi, R., Konishi, N., Kashiwazaki, S., Kamatani, N.
|
|
<strong>A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein.</strong>
|
|
Hum. Genet. 102: 197-202, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9521589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9521589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9521589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004390050677" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="42" class="mim-anchor"></a>
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<a id="Terai1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Terai, C., Hakoda, M., Yamanaka, H., Kamatani, N., Okai, M., Takahashi, F., Kashiwazaki, S.
|
|
<strong>Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation.</strong>
|
|
Clin. Genet. 48: 246-250, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8825602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8825602</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8825602" 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/10.1111/j.1399-0004.1995.tb04098.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="43" class="mim-anchor"></a>
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<a id="Van Acker1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Van Acker, K. J., Simmonds, H. A., Potter, C., Cameron, J. S.
|
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<strong>Complete deficiency of adenine phosphoribosyltransferase: report of a family.</strong>
|
|
New Eng. J. Med. 297: 127-132, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/865583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">865583</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=865583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM197707212970302" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="44" class="mim-anchor"></a>
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<a id="Wang1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, L., Ou, X., Sebesta, I., Vondrak, K., Krijt, J., Elleder, M., Poupetova, H., Ledvinova, J., Zeman, J., Simmonds, H. A., Tischfield, J. A., Sahota, A.
|
|
<strong>Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.</strong>
|
|
Molec. Genet. Metab. 68: 78-85, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10479485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10479485</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10479485" 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/10.1006/mgme.1999.2893" target="_blank">Full Text</a>]
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<li>
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<a id="45" class="mim-anchor"></a>
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<a id="Ward1992" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Ward, I. D., Addison, G. M.
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<strong>2,8-Dihydroxyadenine urolithiasis. (Letter)</strong>
|
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Lancet 339: 1296, 1992.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1349690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1349690</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1349690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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</ol>
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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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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 1/6/2000
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 4/25/1998
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 7/17/2012
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/25/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/24/2022<br>carol : 03/24/2022<br>carol : 10/12/2016<br>carol : 07/09/2016<br>carol : 9/20/2012<br>ckniffin : 9/19/2012
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</span>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 614723
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD
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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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<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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APRT DEFICIENCY<br />
|
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UROLITHIASIS, 2,8-DIHYDROXYADENINE<br />
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UROLITHIASIS, DHA<br />
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NEPHROLITHIASIS, DHA
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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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 124274002;
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<strong>ORPHA:</strong> 976;
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<strong>DO:</strong> 0060350;
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</span>
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</p>
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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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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</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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16q24.3
|
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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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Adenine phosphoribosyltransferase deficiency
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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614723
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
3
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
APRT
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
102600
|
|
</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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<br />
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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>TEXT</strong>
|
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</span>
|
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because adenine phosphoribosyltransferase deficiency (APRTD) is caused by homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT; 102600) on chromosome 16q24.</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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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</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>APRT deficiency is an autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the kidney, which results in crystalluria and the formation of urinary stones. Clinical features include renal colic, hematuria, urinary tract infection, dysuria, and, in some cases, renal failure. The age at onset can range from 5 months to late adulthood; however, as many as 50% of APRT-deficient individuals may be asymptomatic (summary by Sahota et al., 2001).</p><p>Two types of APRT deficiency have been described based on the level of residual enzyme activity in in vitro studies of erythrocytes. Type I deficiency is characterized by complete enzyme deficiency in intact cells and in cell lysates, whereas type II deficiency is characterized by complete enzyme deficiency in intact cells, but only a partial deficiency in cell lysates. Type II alleles show reduced affinity for phosphoribosyl pyrophosphate (PRPP) compared to wildtype. In both types, APRT activity is not functional in vivo. Type II deficiency is most common among Japanese. Heterozygotes of either type do not appear to have any clinical or biochemical abnormalities (summary by Sahota et al., 2001).</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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<h4>
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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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<span class="mim-text-font">
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<p>Mutant forms of adenine phosphoribosyltransferase were described by Kelley et al. (1968) and by Henderson et al. (1969) who found the inheritance to be autosomal. The heat-stable enzyme allele has a frequency of about 15% and the heat-labile enzyme allele a frequency of about 85%. Kelley et al. (1968) found apparent heterozygosity in 4 persons in 3 generations of a family. However, the level of enzyme activity in heterozygotes ranged from 21 to 37%, not 50%. </p><p>Fox et al. (1973) described a family with partial deficiency of red cell APRT, consistent with a heterozygous state, although enzyme activity was less than 50%. The partial deficiency of erythrocyte APRT was not associated with any detectable abnormality in purine metabolism. The proband had a normal concentration of PRPP and ATP in erythrocytes, a normal availability of purine nucleotides, a normal rate of purine biosynthesis de novo, a normal excretion of uric acid, and a normal response to adenine administration. Although the proband had both hyperuricemia and reduced erythrocyte APRT activity, these 2 traits segregated independently in the family. </p><p>Delbarre et al. (1974) found deficiency of APRT in persons with gout but recognized that purine overproduction was not necessarily caused by the APRT deficiency. </p><p>Emmerson et al. (1975) described a family with autosomal inheritance of APRT deficiency. The proband was a 24-year-old woman who had suffered from recurrent gouty arthritis since the age of 11 years. She also demonstrated considerable, although asymptomatic, renal impairment with a creatinine clearance of one-third normal. Eleven other asymptomatic members of the family also demonstrated a similar reduction in APRT activity in erythrocyte lysates. The partially purified APRT enzyme in the proband showed no difference in Michaelis constants, heat stability, or electrophoresis. </p><p>Debray et al. (1976) observed a child with urolithiasis and complete deficiency of APRT. Both parents had partial deficiency. </p><p>Van Acker et al. (1977) described brothers with complete deficiency of APRT. They were detected because one of them had from birth excreted gravel consisting of stones of 2,8-dihydroxyadenine in urine. Neither showed hyperuricemia or gout. Treatment with allopurinol and a low purine diet stopped stone formation. The authors concluded that homozygotes can be detected by raised urinary adenine levels and absence of detectable red cell APRT. </p><p>Barratt et al. (1979) reported a child, born of consanguineous Arab parents, who had 2,8-dihydroxyadenine stones resulting from a complete lack of APRT. </p><p>Gault et al. (1981) described 2,8-dihydroxyadenine urolithiasis in a white woman who lived in Newfoundland and first developed symptoms of urolithiasis at the age of 42. The authors noted that the use of infrared or x-ray diffraction analysis of calculi positive for uric acid with standard wet chemical tests can make the diagnosis. Affected adults may first present with renal failure. Renal biopsy shows changes similar to those of uric acid nephropathy. </p><p>Kishi et al. (1984) found only 10 reported cases of complete deficiency of APRT, beginning with the case of Cartier et al. (1974). Kishi et al. (1984) reported 3 cases in 2 families. Although APRT deficiency occurred in mononuclear cells and polymorphonuclear leukocytes as well as in red cells, no abnormality of immunologic or phagocytic function was detected. The sole clinical manifestation was urinary calculi composed of 2,8-DHA. </p><p>Manyak et al. (1987) found DHA-urolithiasis in a 50-year-old white woman who was homozygous for APRT deficiency. </p><p>Glicklich et al. (1988) reported the second case of homozygous APRT deficiency from the United States. The disorder was recognized 23 years after the patient, a black woman from Bermuda, had her initial episode of renal colic, and after 2,8-dihydroxyadenine stones had recurred after renal transplant.</p><p><strong><em>APRT Deficiency in Japanese</em></strong></p><p>
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Kamatani et al. (1987) examined samples from 19 Japanese families with DHA-urolithiasis. In 15 (79%) of the 19 families, the patients had only partial APRT deficiency, which contrasted with complete deficiency reported in all non-Japanese patients. All Japanese patients with DHA-urolithiasis were homozygotes regardless of whether the deficiency was complete or partial. However, family studies revealed 4 asymptomatic homozygous family members. The segregation pattern was consistent with an autosomal recessive mode of inheritance. Kamatani et al. (1987) estimated that about 1% of the Japanese population are carriers. </p>
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</span>
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<div>
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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>Biochemical Features</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>Rappaport and DeMars (1973) identified clones of cells resistant to 2,6-diaminopurine (DAP) in skin fibroblast cultures derived from 13 of 21 normal humans. In some of the mutant cultures adenine phosphoribosyltransferase was normal. Two mutants from unrelated boys had little or no detectable APRT activity, and resistance to DAP resulted from reduced ability to convert DAP to its toxic ribonucleotide via APRT. The authors reasoned that mutant-yielding cultures were heterozygous to begin with, and suggested that DAP resistance has a heterozygote frequency as high as 0.2. This contrasted with the very low frequency of electrophoretic variants of APRT. There may be other mechanisms for DAP-resistance: for example, azaguanine resistance is determined by mutation at the X-linked HPRT locus. </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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<h4>
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<span class="mim-font">
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<strong>Diagnosis</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>Maddocks and Al-Safi (1988) used identification of adenine in the urine by thin-layer chromatography to diagnose APRT deficiency. </p><p>Simmonds et al. (1992) pointed out that patients who are mistakenly diagnosed as having uric acid lithiasis will be treated successfully with allopurinol despite the incorrect diagnosis. This may be responsible for underdiagnosis of the disorder. Families carrying the mutant APRT gene need to be aware of it since acute renal failure may be the presenting symptom and this may be reversible, though some patients progress to chronic renal failure requiring dialysis and transplantation. Maddocks (1992) described a simple test for distinguishing uric acid calculi from 2,8-DHA calculi. Ward and Addison (1992) indicated that even visual examination can distinguish the two: 2,8-DHA stones are reddish-brown when wet and grayish when dry; they are also very soft and friable. Stones composed mainly of uric acid are very rare in children. </p><p>Laxdal and Jonasson (1988) found 2 children and 2 adults in 4 unrelated families with 2,8-dihydroxyadenine crystalluria. They suggested that the presence of round, brownish urine crystals, even without radiolucent kidney stones, should alert the physician to the diagnosis. Thirteen heterozygotes were identified by study of the families. </p><p>Laxdal (1992) pointed out that Iceland contributed 8 of the 62 APRT-deficient type I homozygotes. The 8 cases were from 8 different families. Although remote ancestral connections were identified, all 8 cases were detected by the finding of typical round reddish-brown crystals in the urine on light microscopy. The importance of alert laboratory technicians in making the diagnosis was emphasized. </p><p>Terai et al. (1995) detected homozygous APRT deficiency by the finding of 2,8-dihydroxyadenine-like spherical crystals in the urinary sediment. The molecular diagnosis was established using PCR-SSCP with the demonstration of the APRT*J allele (102600.0003). </p>
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</span>
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<div>
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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>APRT deficiency is usually inherited in an autosomal recessive pattern (Kamatani et al., 1987). </p><p>Ishidate et al. (1991) reported father and daughter with DHA-urolithiasis. The father and his wife were first cousins; thus, this was an example of pseudodominance. </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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<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 lymphoblastoid cell line from a Caucasian patient in Belgium with complete APRT deficiency, Hidaka et al. (1987) identified compound heterozygosity for 2 mutations in the APRT gene (102600.0001 and 102600.0002). Gathof et al. (1991) identified homozygosity for an APRT mutation (102600.0002) in identical twin brothers born to nonconsanguineous German parents with APRT deficiency. </p><p>In 5 patients from Iceland with complete APRT deficiency, Chen et al. (1990) identified a homozygous mutation in the APRT gene (D65V; 102600.0004).</p><p>In Japanese, partial deficiency of APRT leads to 2,8-dihydroxyadenine urolithiasis (type II), whereas all Caucasian patients with 2,8-DHA urolithiasis have been completely deficient (type I). Fujimori et al. (1985) found that partially purified enzyme from Japanese families has a reduced affinity for phosphoribosylpyrophosphate (PRPP), as well as increased resistance to heat and reduced sensitivity to the stabilizing effect of PRPP. They referred to this common Japanese mutant allele as APRT*J. In Japanese patients with APRT deficiency, Hidaka et al. (1988) identified the molecular basis for the APRT*J allele: an M136T (102600.0003) substitution in the putative PRPP-binding site. The mutant enzyme showed abnormal kinetics and activity that was less than 10.3% of normal. By a specific cleavage method using cyanogen bromide (BrCN) to identify the M136T allele, Kamatani et al. (1989) found that 79% of all Japanese patients with APRT deficiency and more than half of the world's patients have this particular mutation. </p><p>Kamatani et al. (1990) reported a 2-year-old Japanese boy with DHA urolithiasis due to compound heterozygosity for a null APRT allele (APRT*Q0) and the APRT*J allele. </p><p>In 2 sisters from Newfoundland with APRT deficiency, Sahota et al. (1994) identified a homozygous mutation in the APRT gene (L110P; 102600.0007). One of the sisters exhibited 2,8-dihydroxyadenine urolithiasis, whereas the other was disease-free. </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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<h4>
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<span class="mim-font">
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<strong>Population 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>Kamatani et al. (1992) stated that about 70 Japanese families with homozygous APRT deficiency have been reported, whereas the number of reported non-Japanese families is about 36. The estimated gene frequency among Japanese is about 1.2%. Kamatani et al. (1992) found that most APRT-deficient Japanese patients carry 1 of 3 mutant alleles. Among 141 defective APRT alleles from 72 different Japanese families, 96 (68%) carried the M136T mutation (102600.0003). Thirty (21%) and 10 (7%) alleles had the TGG-to-TGA nonsense mutation at codon 98 (102600.0005) and duplication of a 4-bp sequence in exon 3 (102600.0006), respectively. </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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<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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Doppler et al. (1981); Fox et al. (1977); Hakoda et al. (1991);
|
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Hirsch-Kauffmann and Doppler (1981); Kamatani et al. (1987); Menardi
|
|
et al. (1997); Mimori et al. (1991); Sahota et al. (1991); Simmonds
|
|
(1979); Takeuchi et al. (1985); Taniguchi et al. (1998); Wang et al.
|
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(1999)
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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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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Barratt, T. M., Simmonds, H. A., Cameron, J. S., Potter, C. F., Rose, G. A., Arkell, D. G., Williams, D. I.
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<strong>Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.</strong>
|
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Arch. Dis. Child. 54: 25-31, 1979.
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[PubMed: 420519]
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[Full Text: https://doi.org/10.1136/adc.54.1.25]
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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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Cartier, P., Hamet, M., Hamburger, J.
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<strong>Une nouvelle maladie metabolique: le deficit complet en adenine phosphoribosyltransferase avec lithiase de 2,8-dihydroxyadenine.</strong>
|
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C. R. Acad. Hebd. Seances Acad. Sci. D 279: 883-886, 1974.
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[PubMed: 4219298]
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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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Chen, J., Sahota, A., Laxdal, T., Stambrook, P. J., Tischfield, J. A.
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<strong>Demonstration of a common mutation at the adenine phosphoribosyltransferase (APRT) locus in the Icelandic population. (Abstract)</strong>
|
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Am. J. Hum. Genet. 47 (suppl.): A152 only, 1990.
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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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Debray, H., Cartier, P., Temstet, A., Cendron, J.
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<strong>Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyl transferase.</strong>
|
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Pediat. Res. 10: 762-766, 1976.
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[PubMed: 7766]
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[Full Text: https://doi.org/10.1203/00006450-197608000-00014]
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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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Delbarre, F., Auscher, C., Amor, B., de Gery, A., Cartier, P., Hamet, M.
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<strong>Gout with adenine phosphoribosyltransferase deficiency.</strong>
|
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Biomedicine 21: 82-85, 1974.
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[PubMed: 4852180]
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</p>
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<p class="mim-text-font">
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Doppler, W., Hirsch-Kauffmann, M., Schabel, F., Schweiger, M.
|
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<strong>Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT).</strong>
|
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Hum. Genet. 57: 404-410, 1981.
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[PubMed: 7286981]
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[Full Text: https://doi.org/10.1007/BF00281694]
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</p>
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<li>
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<p class="mim-text-font">
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Emmerson, B. T., Gordon, R. B., Thompson, L.
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<strong>Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease.</strong>
|
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Aust. New Zeal. J. Med. 5: 440-446, 1975.
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[PubMed: 1061547]
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[Full Text: https://doi.org/10.1111/j.1445-5994.1975.tb03054.x]
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</p>
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<li>
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<p class="mim-text-font">
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Fox, I. H., Lacroix, S., Planet, G., Moore, M.
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<strong>Partial deficiency of adenine phosphoribosyltransferase in man.</strong>
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Medicine 56: 515-526, 1977.
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[PubMed: 335189]
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[Full Text: https://doi.org/10.1097/00005792-197711000-00006]
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</p>
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<li>
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<p class="mim-text-font">
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Fox, I. H., Meade, J. C., Kelley, W. N.
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<strong>Adenine phosphoribosyltransferase deficiency in man: report of a second family.</strong>
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Am. J. Med. 55: 614-619, 1973.
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[PubMed: 4749203]
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[Full Text: https://doi.org/10.1016/0002-9343(73)90183-6]
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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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Fujimori, S., Akaoka, I., Sakamoto, K., Yamanaka, H., Nishioka, K., Kamatani, N.
|
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<strong>Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.</strong>
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Hum. Genet. 71: 171-176, 1985.
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[PubMed: 3876264]
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[Full Text: https://doi.org/10.1007/BF00283377]
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<p class="mim-text-font">
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Gathof, B. S., Sahota, A., Gresser, U., Chen, J., Stambrook, P. J., Tischfield, J. A., Zollner, N.
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<strong>Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family.</strong>
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Klin. Wochenschr. 69: 1152-1155, 1991.
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[PubMed: 2135300]
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[Full Text: https://doi.org/10.1007/BF01815434]
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<p class="mim-text-font">
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Gault, M. H., Simmonds, H. A., Snedden, W., Dow, D., Churchill, D. N., Penney, H.
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<strong>Urolithiasis due to 2,8-dihydroxyadenine in an adult.</strong>
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New Eng. J. Med. 305: 1570-1572, 1981.
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[PubMed: 7311997]
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[Full Text: https://doi.org/10.1056/NEJM198112243052608]
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<li>
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<p class="mim-text-font">
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Glicklich, D., Gruber, H. E., Matas, A. J., Tellis, V. A., Karwa, G., Finley, K., Salem, C., Soberman, R., Seegmiller, J. E.
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<strong>2,8-Dihydroxyadenine urolithiasis: report of a case first diagnosed after renal transplant.</strong>
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Quart. J. Med. (N.S.) 69: 785-793, 1988.
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<p class="mim-text-font">
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Hakoda, M., Yamanaka, H., Kamatani, N., Kamatani, N.
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<strong>Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: application to screening of heterozygotes.</strong>
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Am. J. Hum. Genet. 48: 552-562, 1991.
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[PubMed: 1998341]
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</p>
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<li>
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<p class="mim-text-font">
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Henderson, J. F., Kelley, W. N., Rosenbloom, F. M., Seegmiller, J. E.
|
|
<strong>Inheritance of purine phosphoribosyltransferases in man.</strong>
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Am. J. Hum. Genet. 21: 61-70, 1969.
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[PubMed: 5763607]
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</p>
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<li>
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<p class="mim-text-font">
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Hidaka, Y., Palella, T. D., O'Toole, T. E., Tarle, S. A., Kelley, W. N.
|
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<strong>Human adenine phosphoribosyltransferase: identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.</strong>
|
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J. Clin. Invest. 80: 1409-1415, 1987.
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[PubMed: 3680503]
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[Full Text: https://doi.org/10.1172/JCI113219]
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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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Hidaka, Y., Tarle, S. A., Fujimori, S., Kamatani, N., Kelley, W. N., Palella, T. D.
|
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<strong>Human adenine phosphoribosyltransferase deficiency: demonstration of a single mutant allele common to the Japanese.</strong>
|
|
J. Clin. Invest. 81: 945-950, 1988.
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[PubMed: 3343350]
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[Full Text: https://doi.org/10.1172/JCI113408]
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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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Hirsch-Kauffmann, M., Doppler, W.
|
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<strong>Biochemical studies on a patient with complete APRT-deficiency. (Abstract)</strong>
|
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Sixth International Congress of Human Genetics, Jerusalem 1981. P. 96.
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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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Ishidate, T., Igarashi, S., Kamatani, N.
|
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<strong>Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency.</strong>
|
|
J. Pediat. 118: 90-91, 1991.
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[PubMed: 1986109]
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[Full Text: https://doi.org/10.1016/s0022-3476(05)81854-2]
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</p>
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</li>
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<li>
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Wang, L., Ou, X., Sebesta, I., Vondrak, K., Krijt, J., Elleder, M., Poupetova, H., Ledvinova, J., Zeman, J., Simmonds, H. A., Tischfield, J. A., Sahota, A.
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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