3370 lines
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3370 lines
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Entry
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- #300661 - PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
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- OMIM
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<p>
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<span class="h4">#300661</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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<li role="presentation">
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<a href="/clinicalSynopsis/300661"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2879&Typ=Pat" title="Phosphoribosylpyrophosphate synthetase superactivity" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Phosphoribosylpyrophosphat… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23018&Typ=Pat" title="Mild phosphoribosylpyrophosphate synthetase superactivity" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Mild phosphoribosylpyropho… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23019&Typ=Pat" title="Severe phosphoribosylpyrophosphate synthetase superactivity" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Severe phosphoribosylpyrop… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1973/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9104" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/phosphoribosylpyrophosphate-synthetase-superactivity" 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=300661[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3222" title="Phosphoribosylpyrophosphate synthetase superactivity" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Phosphoribosylpyrophosphat…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=411536" title="Mild phosphoribosylpyrophosphate synthetase superactivity" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Mild phosphoribosylpyropho…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=411543" title="Severe phosphoribosylpyrophosphate synthetase superactivity" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Severe phosphoribosylpyrop…</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/dcb1e18c-5a6b-4c98-b62e-2a0e5cdae847/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111260" 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/300661" 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:0111260" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 723454008<br />
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<strong>ORPHA:</strong> 3222, 411536, 411543<br />
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<strong>DO:</strong> 0111260<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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300661
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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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PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
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</span>
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</h3>
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<div>
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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PRPS1 SUPERACTIVITY
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</h4>
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<div>
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<p>
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Other entities represented in this entry:
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</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
GOUT, PRPS-RELATED, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/552?start=-3&limit=10&highlight=552">
|
|
Xq22.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Gout, PRPS-related
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300661"> 300661 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PRPS1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311850"> 311850 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/552?start=-3&limit=10&highlight=552">
|
|
Xq22.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Phosphoribosylpyrophosphate synthetase superactivity
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300661"> 300661 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PRPS1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311850"> 311850 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/300661" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300661" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300661" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sensorineural hearing loss (early-onset form) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970834&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970834</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Uric acid urolithiasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267441009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267441009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/274.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">274.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0403719&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0403719</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000791" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000791</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000791" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000791</a>]</span><br /> -
|
|
Secondary renal insufficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970833</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Gout <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90560007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90560007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/274.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">274.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">274</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018099&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018099</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001997</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001997</a>]</span><br /> -
|
|
Gouty arthritis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48440001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48440001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/170733007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">170733007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/190828008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">190828008</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/274.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">274.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/274.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">274.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003868&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003868</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001997</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001997</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Neurodevelopmental impairment (early-onset form) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970828&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970828</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/700364009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">700364009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F89</a>]</span><br /> -
|
|
Hypotonia (early-onset form) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970829</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
|
|
Locomotor delay (early-onset form) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970830&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970830</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
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Mental retardation (early-onset form) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970831&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970831</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
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Ataxia (early-onset form) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970832&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970832</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br />
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- Overproduction of uric acid and purines <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970839&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970839</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Hyperuricemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35885006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35885006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740394</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002149</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002149</a>]</span><br /> -
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Hyperuricosuria <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R82.993" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R82.993</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0948643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0948643</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003149</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003149</a>]</span><br /> -
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Increased activity of the PRPP synthetase 1 enzyme <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970835&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970835</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
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- Two main phenotypes, early-onset with neurologic defects and early-adult onset with gout<br /> -
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Heterozygous females may have gout and/or sensorineural deafness<br />
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</span>
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the phosphoribosylpyrophosphate synthetase I gene (PRPS1, <a href="/entry/311850#0001">311850.0001</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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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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<p>A number sign (#) is used with this entry because the phenotype is caused by mutations in the gene encoding phosphoribosylpyrophosphate synthetase I (PRPS1; <a href="/entry/311850">311850</a>) that result in increased enzyme activity.</p><p>X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5; <a href="/entry/311070">311070</a>) is an allelic disorder resulting from decreased enzyme activity. Affected individuals have neurologic symptoms, including sensorineural deafness. Another allelic disorder, Arts syndrome (<a href="/entry/301835">301835</a>), results from loss of PRPS1 activity and has a severe neurologic phenotype including mental retardation, early-onset hypotonia, and susceptibility to infections.</p>
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<strong>Description</strong>
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<p>Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (<a href="#6" class="mim-tip-reference" title="Becker, M. A., Puig, J. G., Mateos, F. A., Jimenez, M. L., Kim, M., Simmonds, H. A. <strong>Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness.</strong> Am. J. Med. 85: 383-390, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2843048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2843048</a>] [<a href="https://doi.org/10.1016/0002-9343(88)90591-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2843048">Becker et al., 1988</a>; <a href="#16" class="mim-tip-reference" title="Roessler, B. J., Nosal, J. M., Smith, P. R., Heidler, S. A., Palella, T. D., Switzer, R. L., Becker, M. A. <strong>Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.</strong> J. Biol. Chem. 268: 26476-26481, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8253776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8253776</a>]" pmid="8253776">Roessler et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2843048+8253776" 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>Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (<a href="#10" class="mim-tip-reference" title="Becker, M. A. <strong>Hyperuricemia and Gout. 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. P. 2625."None>Becker, 2001</a>).</p>
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<strong>Clinical Features</strong>
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<p>Sperling et al. (<a href="#20" class="mim-tip-reference" title="Sperling, O., Eilam, G., Persky-Brosh, S., De Vries, A. <strong>Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis: a familial abnormality associated with excessive uric acid production and gout.</strong> Biochem. Med. 6: 310-316, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4340256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4340256</a>] [<a href="https://doi.org/10.1016/0006-2944(72)90017-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4340256">1972</a>, <a href="#21" class="mim-tip-reference" title="Sperling, O., Persky-Brosh, S., Boer, P., De Vries, A. <strong>Human erythrocyte phosphoribosylpyrophosphate synthetase mutationally altered in regulatory properties.</strong> Biochem. Med. 7: 389-395, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4351826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4351826</a>] [<a href="https://doi.org/10.1016/0006-2944(73)90059-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4351826">1973</a>) and Zoref et al. (<a href="#24" class="mim-tip-reference" title="Zoref, E., De Vries, A., Sperling, O. <strong>Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout: phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.</strong> J. Clin. Invest. 56: 1093-1099, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/171280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">171280</a>] [<a href="https://doi.org/10.1172/JCI108183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="171280">1975</a>, <a href="#26" class="mim-tip-reference" title="Zoref, E., De Vries, A., Sperling, O. <strong>Evidence for X-linkage of phosphoribosylpyrophosphate synthetase in man: studies with cultured fibroblasts from a gouty family with mutant feedback-resistant enzyme.</strong> Hum. Hered. 27: 73-80, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/191349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">191349</a>] [<a href="https://doi.org/10.1159/000152853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="191349">1977</a>) described a familial disorder characterized by early-adult onset of excessive purine production, gout, and uric acid urolithiasis associated with hyperuricemia and hyperuricosuria. The PRPS1 enzyme activity was described as 'superactive,' showing increased de novo synthesis of purine nucleotides. PRPS1 activity in red cells and cultured skin fibroblasts was resistant to feedback inhibition by guanosine diphosphate (GDP) and adenosine diphosphate (ADP). Fibroblast cultures were homogeneous for the mutant enzyme in affected males, whereas unaffected females showed mutant and normal activity. The pattern of inheritance was X-linked recessive. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=171280+4340256+191349+4351826" 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="Becker, M. A., Raivio, K. O., Bakay, B., Adams, W. B., Nyhan, W. L. <strong>Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions.</strong> J. Clin. Invest. 65: 109-120, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6243137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6243137</a>] [<a href="https://doi.org/10.1172/JCI109640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6243137">Becker et al. (1980)</a> provided follow-up studies of a family reported by <a href="#14" class="mim-tip-reference" title="Nyhan, W. L., James, J. A., Teberg, A. J., Sweetman, L., Nelson, L. G. <strong>A new disorder of purine metabolism with behavioral manifestations.</strong> J. Pediat. 74: 20-27, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5782823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5782823</a>] [<a href="https://doi.org/10.1016/s0022-3476(69)80004-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5782823">Nyhan et al. (1969)</a> in which a boy had hyperuricemia, mental retardation, and sensorineural deafness from infancy associated with PRPS1 superactivity. His affected mother had gout, uric acid urolithiasis, and significant hearing loss. Fibroblast studies of this patient and his mother indicated that the mutant enzyme had both regulatory and catalytic defects. The enzyme showed 4- to 5-fold greater than normal resistance to feedback inhibition and, in addition, increased maximal velocity of the enzyme reaction. The son was hemizygous, and his mother heterozygous, for the defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5782823+6243137" 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="Simmonds, H. A., Webster, D. R., Wilson, J., Lingham, S. <strong>An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities.</strong> Lancet 320: 68-70, 1982. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6123809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6123809</a>] [<a href="https://doi.org/10.1016/s0140-6736(82)91690-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6123809">Simmonds et al. (1982)</a> reported a 3-year-old boy with hypotonia, locomotor delay, and high frequency hearing loss associated with purine hyperactivity. The same disorder was probably present in 2 brothers who died in early childhood. The mother also showed hyperuricemia, purine overproduction, and sensorineural deafness from infancy. Severe depletion of red cell nicotinamide adenine dinucleotide (NAD) and GTP appeared to be associated with the neurologic abnormalities. <a href="#19" class="mim-tip-reference" title="Simmonds, H. A., Webster, D. R., Wilson, J., Lingham, S. <strong>An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities.</strong> Lancet 320: 68-70, 1982. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6123809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6123809</a>] [<a href="https://doi.org/10.1016/s0140-6736(82)91690-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6123809">Simmonds et al. (1982)</a> referred to the report of <a href="#18" class="mim-tip-reference" title="Rosenberg, A. L., Bergstrom, L., Troost, B. T., Bartholomew, B. A. <strong>Hyperuricemia and neurologic deficits: a family study.</strong> New Eng. J. Med. 282: 992-997, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5436556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5436556</a>] [<a href="https://doi.org/10.1056/NEJM197004302821802" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5436556">Rosenberg et al. (1970)</a> in which 5 family members had ataxia, deafness, hyperuricemia, and renal insufficiency. Serum urate levels were elevated in other members of the kindred who did not have renal insufficiency, indicating that the hyperuricemia was not secondary to renal disease. Red cell hypoxanthine-guanine phosphoribosyltransferase (HPRT1; <a href="/entry/308000">308000</a>) levels were normal. The pedigree was consistent with X-linked inheritance with full expression in some females and incomplete expression in others. <a href="#15" class="mim-tip-reference" title="Riccardi, V. M. <strong>Personal Communication.</strong> Denver, Colo. 1974."None>Riccardi (1974)</a> studied the same family and concluded that X-linked dominant inheritance was unlikely because males seemed to be no more severely affected on the average than females. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5436556+6123809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Becker, M. A., Puig, J. G., Mateos, F. A., Jimenez, M. L., Kim, M., Simmonds, H. A. <strong>Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness.</strong> Am. J. Med. 85: 383-390, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2843048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2843048</a>] [<a href="https://doi.org/10.1016/0002-9343(88)90591-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2843048">Becker et al. (1988)</a> reported a Spanish mother and son with PRPS1 superactivity. The 8-year-old boy had tophaceous gout, purine nucleotide and uric acid overproduction, and sensorineural deafness; his 27-year-old mother had gout. Fibroblast studies showed that the kinetic basis of superactivity in this family was resistance to purine nucleotide inhibition of enzyme activity. The boy was hemizygous, and his mother heterozygous, for the defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2843048" 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="#11" class="mim-tip-reference" title="Christen, H.-J., Hanefeld, F., Duley, J. A., Simmonds, H. A. <strong>Distinct neurological syndrome in two brothers with hyperuricaemia. (Letter)</strong> Lancet 340: 1167-1168, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1359249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1359249</a>] [<a href="https://doi.org/10.1016/0140-6736(92)93202-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1359249">Christen et al. (1992)</a> described a family with hyperuricemia and aberrant PRPS activity affecting the mother and 2 sons. Hypertonia and hyperuricemia were recognized in the mother at the age of 20 years; she later developed gouty arthritis. Her 2 sons were born prematurely by cesarean section. Gestational diabetes mellitus was diagnosed during the pregnancy with the first affected son, and both sons were diagnosed as having neonatal diabetes mellitus requiring insulin treatment through early childhood. Both boys showed growth retardation, mental and motor retardation with absent development of speech, muscular hypotonia (especially during the first year of life), cerebellar ataxia, and dysmetria, polyneuropathy with areflexia, and atrophy of the lower legs. All 3 had facial stigmata suggestive of a genetic syndrome, including triangular face with prominent forehead, epicanthus, hypotelorism, beaked nose, broad mouth, and hyperopia. Electroneurography in both boys demonstrated a progressive axonal neuropathy with demyelinization. Hearing was not impaired in any of the three. Crystals of urate could be seen in the diapers and on the tip of the penis in both boys, but both had normal renal function. Findings in fibroblasts and lymphoblasts of both boys suggested superactivity of PRPS due to resistance of the enzyme to nucleotide feedback. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1359249" 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="Moran, R., Kuilenburg, A. B. P., Duley, J., Nabuurs, S. B., Retno-Fitri, A., Christodoulou, J., Roelofsen, J., Yntema, H. G., Friedman, N. R., van Bokhoven, H., de Brouwer, A. P. M. <strong>Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.val142-to-leu mutation in PRS-I.</strong> Am. J. Med. Genet. 158A: 455-460, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246954</a>] [<a href="https://doi.org/10.1002/ajmg.a.34428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246954">Moran et al. (2012)</a> described a patient with PRPS1 superactivity as well as features of Arts syndrome (<a href="/entry/301835">301835</a>), a developmental disorder also caused by mutations in the PRPS1 gene. Laboratory studies showed increased serum uric acid and increased urinary hypoxanthine consistent with PRPS1 superactivity, but he did not have gout. He had developmental delay, hypotonia, areflexia, motor neuropathy, sensorineural hearing loss, and a Chiari I malformation. In addition, he had recurrent infections and early death at age 27 months from infection, consistent with Arts syndrome. A maternal uncle with similar symptoms had died of pneumonia at age 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246954" 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="#4" class="mim-tip-reference" title="Becker, M. A., Meyer, L. J., Seegmiller, J. E. <strong>Gout with purine overproduction due to increased phosphoribosylphosphate synthetase activity.</strong> Am. J. Med. 55: 232-242, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4722859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4722859</a>] [<a href="https://doi.org/10.1016/0002-9343(73)90174-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4722859">Becker et al. (1973)</a> concluded that the PRPS mutation that led to gout in a family they studied was autosomal dominant, but in later studies (<a href="#23" class="mim-tip-reference" title="Yen, R. C. K., Adams, W. B., Lazar, C., Becker, M. A. <strong>Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase.</strong> Proc. Nat. Acad. Sci. 75: 482-485, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/203941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">203941</a>] [<a href="https://doi.org/10.1073/pnas.75.1.482" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="203941">Yen et al., 1978</a>) presented evidence for X-linkage: a daughter of an affected male had activity of the enzyme in fibroblasts intermediate between the normal and that of affected males. Furthermore, the affected mother showed 2 electrophoretically distinct bands of PRPS1 activity: 1 corresponding to the normal single band and 1 corresponding to the single band of affected males. However, erythrocytes and lymphocytes in the female showed increased synthetase activity of the same magnitude as that in affected males. This suggested nonrandom lyonization in progenitor cells or, more likely, selection against the cells with the wildtype X chromosome as the active one. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=203941+4722859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a boy with hyperuricemia, sensorineural deafness, ataxia, and secondary renal insufficiency associated with PRPS1 superactivity reported by <a href="#3" class="mim-tip-reference" title="Becker, M. A., Losman, M. J., Wilson, J., Simmonds, H. A. <strong>Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate.</strong> Biochim. Biophys. Acta 882: 168-176, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2423135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2423135</a>] [<a href="https://doi.org/10.1016/0304-4165(86)90151-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2423135">Becker et al. (1986)</a>, Roessler et al. (<a href="#17" class="mim-tip-reference" title="Roessler, B. J., Palella, T. D., Heidler, S., Becker, M. A. <strong>Identification of distinct PRPS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity. (Abstract)</strong> Clin. Res. 39: 267A, 1991."None>1991</a>, <a href="#16" class="mim-tip-reference" title="Roessler, B. J., Nosal, J. M., Smith, P. R., Heidler, S. A., Palella, T. D., Switzer, R. L., Becker, M. A. <strong>Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.</strong> J. Biol. Chem. 268: 26476-26481, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8253776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8253776</a>]" pmid="8253776">1993</a>) identified mutation in the PRPS1 gene (<a href="/entry/311850#0001">311850.0001</a>). Biochemical studies in fibroblasts were consistent with PRPS superactivity and purine nucleotide feedback-resistance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8253776+2423135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a son and mother with PRPS1 superactivity reported by <a href="#7" class="mim-tip-reference" title="Becker, M. A., Raivio, K. O., Bakay, B., Adams, W. B., Nyhan, W. L. <strong>Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions.</strong> J. Clin. Invest. 65: 109-120, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6243137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6243137</a>] [<a href="https://doi.org/10.1172/JCI109640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6243137">Becker et al. (1980)</a>, <a href="#16" class="mim-tip-reference" title="Roessler, B. J., Nosal, J. M., Smith, P. R., Heidler, S. A., Palella, T. D., Switzer, R. L., Becker, M. A. <strong>Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.</strong> J. Biol. Chem. 268: 26476-26481, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8253776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8253776</a>]" pmid="8253776">Roessler et al. (1993)</a> identified a mutation in the PRPS1 gene (<a href="/entry/311850#0002">311850.0002</a>). Both had sensorineural hearing loss since infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8253776+6243137" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a man with PRPS1 superactivity associated only with early-onset gout (<a href="#24" class="mim-tip-reference" title="Zoref, E., De Vries, A., Sperling, O. <strong>Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout: phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.</strong> J. Clin. Invest. 56: 1093-1099, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/171280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">171280</a>] [<a href="https://doi.org/10.1172/JCI108183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="171280">Zoref et al., 1975</a>), <a href="#8" class="mim-tip-reference" title="Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L. <strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong> J. Clin. Invest. 96: 2133-2141, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>] [<a href="https://doi.org/10.1172/JCI118267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593598">Becker et al. (1995)</a> identified a hemizygous mutation in the PRPS1 gene (<a href="/entry/311850#0003">311850.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=171280+7593598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with a complex phenotype comprising Arts syndrome and PRPS1 superactivity, <a href="#13" class="mim-tip-reference" title="Moran, R., Kuilenburg, A. B. P., Duley, J., Nabuurs, S. B., Retno-Fitri, A., Christodoulou, J., Roelofsen, J., Yntema, H. G., Friedman, N. R., van Bokhoven, H., de Brouwer, A. P. M. <strong>Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.val142-to-leu mutation in PRS-I.</strong> Am. J. Med. Genet. 158A: 455-460, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246954</a>] [<a href="https://doi.org/10.1002/ajmg.a.34428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246954">Moran et al. (2012)</a> detected a missense mutation in the transversion in exon 4 of the PRPS1 gene (V142L; <a href="/entry/311850#0017">311850.0017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246954" 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="#9" class="mim-tip-reference" title="Becker, M. A., Taylor, W., Smith, P. R., Ahmed, M. <strong>Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase.</strong> J. Biol. Chem. 271: 19894-19899, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8702702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8702702</a>] [<a href="https://doi.org/10.1074/jbc.271.33.19894" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8702702">Becker et al. (1996)</a> stated that defective allosteric regulation of PRPS1 activity by purine nucleotide inhibitors (such as ADP and GDP) and by the activator P(i) characterizes one kinetically defined class of superactive PRS that result from point mutations in the PRPS1 gene (<a href="#8" class="mim-tip-reference" title="Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L. <strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong> J. Clin. Invest. 96: 2133-2141, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>] [<a href="https://doi.org/10.1172/JCI118267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593598">Becker et al., 1995</a>; <a href="#9" class="mim-tip-reference" title="Becker, M. A., Taylor, W., Smith, P. R., Ahmed, M. <strong>Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase.</strong> J. Biol. Chem. 271: 19894-19899, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8702702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8702702</a>] [<a href="https://doi.org/10.1074/jbc.271.33.19894" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8702702">Becker et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8702702+7593598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Catalytic Superactivity of PRPS1</em></strong></p><p>
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Becker et al. (<a href="#1" class="mim-tip-reference" title="Becker, M. A., Kostel, P. J., Meyer, L. J., Seegmiller, J. E. <strong>Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis.</strong> Proc. Nat. Acad. Sci. 70: 2749-2752, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4200723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4200723</a>] [<a href="https://doi.org/10.1073/pnas.70.10.2749" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4200723">1973</a>, <a href="#5" class="mim-tip-reference" title="Becker, M. A., Meyer, L. J., Wood, A. W., Seegmiller, J. E. <strong>Purine overproduction in man associated with increased phosphoribosylpyrophosphate synthetase activity.</strong> Science 179: 1123-1126, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4347565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4347565</a>] [<a href="https://doi.org/10.1126/science.179.4078.1123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4347565">1973</a>) reported 2 brothers with gout and excessive purine synthesis associated with increased intrinsic catalytic activity of the PRPS enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4200723+4347565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Becker, M. A., Losman, M. J., Rosenberg, A. L., Mehlman, I., Levinson, D. J., Holmes, E. W. <strong>Phosphoribosylpyrophosphate synthetase superactivity: a study of five patients with catalytic defects in the enzyme.</strong> Arthritis Rheum. 29: 880-888, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3017368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3017368</a>] [<a href="https://doi.org/10.1002/art.1780290710" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3017368">Becker et al. (1986)</a> studied fibroblasts and red cells from 4 unrelated males with early-adult onset of hyperuricemia, gout, and uric acid overproduction. The kinetic basis of enzyme superactivity in all patients was determined to be increased maximal reaction velocity. Affinities for substrate activators and responsiveness to inhibitors were normal, and all had increased phosphoribosylpyrophosphate concentration and generation. Cultured fibroblasts of female relatives of 2 patients showed evidence of heterozygosity as measured by enzyme activities and rates of purine synthesis. Altered physical properties of the superactive enzymes suggested that several distinctive variants may be represented. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3017368" 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="Becker, M. A., Taylor, W., Smith, P. R., Ahmed, M. <strong>Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase.</strong> J. Biol. Chem. 271: 19894-19899, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8702702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8702702</a>] [<a href="https://doi.org/10.1074/jbc.271.33.19894" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8702702">Becker et al. (1996)</a> noted that in a second and more frequently encountered class of PRPS superactivity, regulation of enzyme activity by nucleotide inhibitors is normal, as are affinities for substrates and activators such as Mg(2+) and P(i). This so-called inherited 'catalytic' superactivity was unassociated with alteration in the translated sequences of either PRPS1 or PRPS2 cDNA, which is in contrast to PRPS superactivity associated with defective allosteric regulatory properties. Rather, catalytic overactivity of PRPS appeared to reflect increased intracellular concentrations of the normal PRPS1 isoform. Accumulating increases in levels of PRPS1 transcript with entirely normal sequence in cells from affected individuals suggested derangement of a pretranslational mechanism regulating the expression of PRPS1 in catalytic superactivity of PRPS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8702702" 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="#De1973" class="mim-tip-reference" title="De Vries, A., Sperling, O. <strong>Familial gouty malignant uric acid lithiasis due to mutant phosphoribosylpyrophosphatase synthetase.</strong> Der Urologe 12: 153-157, 1973.">De Vries and Sperling (1973)</a>; <a href="#Takeuchi1981" class="mim-tip-reference" title="Takeuchi, F., Hanaoka, F., Yano, E., Yamada, M., Horiuchi, Y., Akaoka, I. <strong>The mode of genetic transmission of a gouty family with increased phosphoribosylpyrophosphate synthetase activity.</strong> Hum. Genet. 58: 322-330, 1981.">Takeuchi et al. (1981)</a>; <a href="#Zoref1976" class="mim-tip-reference" title="Zoref, E., De Vries, A., Sperling, O. <strong>Metabolic cooperation between human fibroblasts with normal and with mutant superactive phosphoribosylpyrophosphate synthetase.</strong> Nature 260: 787-788, 1976.">Zoref et al.
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Becker, M. A., Kostel, P. J., Meyer, L. J., Seegmiller, J. E.
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<strong>Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis.</strong>
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Proc. Nat. Acad. Sci. 70: 2749-2752, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4200723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4200723</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4200723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Becker, M. A., Losman, M. J., Rosenberg, A. L., Mehlman, I., Levinson, D. J., Holmes, E. W.
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<strong>Phosphoribosylpyrophosphate synthetase superactivity: a study of five patients with catalytic defects in the enzyme.</strong>
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Arthritis Rheum. 29: 880-888, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3017368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3017368</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3017368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/art.1780290710" target="_blank">Full Text</a>]
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Becker, M. A., Losman, M. J., Wilson, J., Simmonds, H. A.
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<strong>Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate.</strong>
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Biochim. Biophys. Acta 882: 168-176, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2423135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2423135</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2423135" 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/10.1016/0304-4165(86)90151-0" target="_blank">Full Text</a>]
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Becker, M. A., Meyer, L. J., Seegmiller, J. E.
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<strong>Gout with purine overproduction due to increased phosphoribosylphosphate synthetase activity.</strong>
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Am. J. Med. 55: 232-242, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4722859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4722859</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4722859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Becker, M. A., Meyer, L. J., Wood, A. W., Seegmiller, J. E.
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<strong>Purine overproduction in man associated with increased phosphoribosylpyrophosphate synthetase activity.</strong>
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Science 179: 1123-1126, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4347565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4347565</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4347565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Becker, M. A., Puig, J. G., Mateos, F. A., Jimenez, M. L., Kim, M., Simmonds, H. A.
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<strong>Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness.</strong>
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Am. J. Med. 85: 383-390, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2843048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2843048</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2843048" 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/10.1016/0002-9343(88)90591-8" target="_blank">Full Text</a>]
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Becker, M. A., Raivio, K. O., Bakay, B., Adams, W. B., Nyhan, W. L.
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<strong>Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions.</strong>
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J. Clin. Invest. 65: 109-120, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6243137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6243137</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6243137" 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/JCI109640" target="_blank">Full Text</a>]
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Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L.
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<strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong>
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J. Clin. Invest. 96: 2133-2141, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7593598" 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/JCI118267" target="_blank">Full Text</a>]
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Becker, M. A., Taylor, W., Smith, P. R., Ahmed, M.
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<strong>Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase.</strong>
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J. Biol. Chem. 271: 19894-19899, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8702702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8702702</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8702702" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Hyperuricemia and Gout. 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>
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New York: McGraw-Hill (pub.) 2001. P. 2625.
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Christen, H.-J., Hanefeld, F., Duley, J. A., Simmonds, H. A.
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<strong>Distinct neurological syndrome in two brothers with hyperuricaemia. (Letter)</strong>
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Lancet 340: 1167-1168, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1359249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1359249</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1359249" 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)93202-x" target="_blank">Full Text</a>]
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De Vries, A., Sperling, O.
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<strong>Familial gouty malignant uric acid lithiasis due to mutant phosphoribosylpyrophosphatase synthetase.</strong>
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Der Urologe 12: 153-157, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4353654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4353654</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4353654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Moran, R., Kuilenburg, A. B. P., Duley, J., Nabuurs, S. B., Retno-Fitri, A., Christodoulou, J., Roelofsen, J., Yntema, H. G., Friedman, N. R., van Bokhoven, H., de Brouwer, A. P. M.
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<strong>Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.val142-to-leu mutation in PRS-I.</strong>
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Am. J. Med. Genet. 158A: 455-460, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246954</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.34428" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Nyhan1969" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nyhan, W. L., James, J. A., Teberg, A. J., Sweetman, L., Nelson, L. G.
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<strong>A new disorder of purine metabolism with behavioral manifestations.</strong>
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J. Pediat. 74: 20-27, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5782823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5782823</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5782823" 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/s0022-3476(69)80004-1" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Riccardi1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Riccardi, V. M.
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<strong>Personal Communication.</strong>
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Denver, Colo. 1974.
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</p>
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<a id="16" class="mim-anchor"></a>
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<a id="Roessler1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Roessler, B. J., Nosal, J. M., Smith, P. R., Heidler, S. A., Palella, T. D., Switzer, R. L., Becker, M. A.
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<strong>Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.</strong>
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J. Biol. Chem. 268: 26476-26481, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8253776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8253776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8253776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="Roessler1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Roessler, B. J., Palella, T. D., Heidler, S., Becker, M. A.
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<strong>Identification of distinct PRPS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity. (Abstract)</strong>
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Clin. Res. 39: 267A, 1991.
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<a id="18" class="mim-anchor"></a>
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<a id="Rosenberg1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rosenberg, A. L., Bergstrom, L., Troost, B. T., Bartholomew, B. A.
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<strong>Hyperuricemia and neurologic deficits: a family study.</strong>
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New Eng. J. Med. 282: 992-997, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5436556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5436556</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5436556" 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/NEJM197004302821802" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Simmonds1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Simmonds, H. A., Webster, D. R., Wilson, J., Lingham, S.
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<strong>An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6123809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6123809</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6123809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(82)91690-7" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
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<a id="Sperling1972" class="mim-anchor"></a>
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<p class="mim-text-font">
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Sperling, O., Eilam, G., Persky-Brosh, S., De Vries, A.
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<strong>Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis: a familial abnormality associated with excessive uric acid production and gout.</strong>
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Biochem. Med. 6: 310-316, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4340256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4340256</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4340256" 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/10.1016/0006-2944(72)90017-8" target="_blank">Full Text</a>]
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<a id="Sperling1973" class="mim-anchor"></a>
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<p class="mim-text-font">
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Sperling, O., Persky-Brosh, S., Boer, P., De Vries, A.
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<strong>Human erythrocyte phosphoribosylpyrophosphate synthetase mutationally altered in regulatory properties.</strong>
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Biochem. Med. 7: 389-395, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4351826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4351826</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4351826" 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/10.1016/0006-2944(73)90059-8" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
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<a id="Takeuchi1981" 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., Hanaoka, F., Yano, E., Yamada, M., Horiuchi, Y., Akaoka, I.
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<strong>The mode of genetic transmission of a gouty family with increased phosphoribosylpyrophosphate synthetase activity.</strong>
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Hum. Genet. 58: 322-330, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6276287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6276287</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6276287" 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/BF00294932" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
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<a id="Yen1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yen, R. C. K., Adams, W. B., Lazar, C., Becker, M. A.
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<strong>Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase.</strong>
|
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Proc. Nat. Acad. Sci. 75: 482-485, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/203941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">203941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=203941" 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/10.1073/pnas.75.1.482" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
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<a id="Zoref1975" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zoref, E., De Vries, A., Sperling, O.
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<strong>Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout: phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.</strong>
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J. Clin. Invest. 56: 1093-1099, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/171280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">171280</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=171280" 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/JCI108183" target="_blank">Full Text</a>]
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<a id="25" class="mim-anchor"></a>
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<a id="Zoref1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zoref, E., De Vries, A., Sperling, O.
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<strong>Metabolic cooperation between human fibroblasts with normal and with mutant superactive phosphoribosylpyrophosphate synthetase.</strong>
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Nature 260: 787-788, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/177888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">177888</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=177888" 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/10.1038/260786a0" target="_blank">Full Text</a>]
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<a id="26" class="mim-anchor"></a>
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<a id="Zoref1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zoref, E., De Vries, A., Sperling, O.
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<strong>Evidence for X-linkage of phosphoribosylpyrophosphate synthetase in man: studies with cultured fibroblasts from a gouty family with mutant feedback-resistant enzyme.</strong>
|
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Hum. Hered. 27: 73-80, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/191349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">191349</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=191349" 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/10.1159/000152853" target="_blank">Full Text</a>]
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Contributors:
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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 - updated : 8/16/2007
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Creation Date:
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<span class="mim-text-font">
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Cassandra L. Kniffin : 8/13/2007
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carol : 03/25/2022
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alopez : 02/21/2017<br>carol : 07/09/2016<br>alopez : 4/20/2012<br>alopez : 4/12/2012<br>terry : 4/10/2012<br>ckniffin : 4/9/2012<br>terry : 4/9/2009<br>alopez : 8/22/2007<br>carol : 8/17/2007<br>ckniffin : 8/16/2007
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<span class="mim-font">
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<strong>#</strong> 300661
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<h3>
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PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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PRPS1 SUPERACTIVITY
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Other entities represented in this entry:
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<span class="h3 mim-font">
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GOUT, PRPS-RELATED, INCLUDED
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 723454008;
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<strong>ORPHA:</strong> 3222, 411536, 411543;
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<strong>DO:</strong> 0111260;
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</span>
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</p>
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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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Xq22.3
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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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Gout, PRPS-related
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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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300661
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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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X-linked recessive
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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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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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PRPS1
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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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311850
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Xq22.3
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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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Phosphoribosylpyrophosphate synthetase superactivity
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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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300661
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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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X-linked recessive
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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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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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PRPS1
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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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311850
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<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">
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<p>A number sign (#) is used with this entry because the phenotype is caused by mutations in the gene encoding phosphoribosylpyrophosphate synthetase I (PRPS1; 311850) that result in increased enzyme activity.</p><p>X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5; 311070) is an allelic disorder resulting from decreased enzyme activity. Affected individuals have neurologic symptoms, including sensorineural deafness. Another allelic disorder, Arts syndrome (301835), results from loss of PRPS1 activity and has a severe neurologic phenotype including mental retardation, early-onset hypotonia, and susceptibility to infections.</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>Description</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>Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993). </p><p>Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 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>Sperling et al. (1972, 1973) and Zoref et al. (1975, 1977) described a familial disorder characterized by early-adult onset of excessive purine production, gout, and uric acid urolithiasis associated with hyperuricemia and hyperuricosuria. The PRPS1 enzyme activity was described as 'superactive,' showing increased de novo synthesis of purine nucleotides. PRPS1 activity in red cells and cultured skin fibroblasts was resistant to feedback inhibition by guanosine diphosphate (GDP) and adenosine diphosphate (ADP). Fibroblast cultures were homogeneous for the mutant enzyme in affected males, whereas unaffected females showed mutant and normal activity. The pattern of inheritance was X-linked recessive. </p><p>Becker et al. (1980) provided follow-up studies of a family reported by Nyhan et al. (1969) in which a boy had hyperuricemia, mental retardation, and sensorineural deafness from infancy associated with PRPS1 superactivity. His affected mother had gout, uric acid urolithiasis, and significant hearing loss. Fibroblast studies of this patient and his mother indicated that the mutant enzyme had both regulatory and catalytic defects. The enzyme showed 4- to 5-fold greater than normal resistance to feedback inhibition and, in addition, increased maximal velocity of the enzyme reaction. The son was hemizygous, and his mother heterozygous, for the defect. </p><p>Simmonds et al. (1982) reported a 3-year-old boy with hypotonia, locomotor delay, and high frequency hearing loss associated with purine hyperactivity. The same disorder was probably present in 2 brothers who died in early childhood. The mother also showed hyperuricemia, purine overproduction, and sensorineural deafness from infancy. Severe depletion of red cell nicotinamide adenine dinucleotide (NAD) and GTP appeared to be associated with the neurologic abnormalities. Simmonds et al. (1982) referred to the report of Rosenberg et al. (1970) in which 5 family members had ataxia, deafness, hyperuricemia, and renal insufficiency. Serum urate levels were elevated in other members of the kindred who did not have renal insufficiency, indicating that the hyperuricemia was not secondary to renal disease. Red cell hypoxanthine-guanine phosphoribosyltransferase (HPRT1; 308000) levels were normal. The pedigree was consistent with X-linked inheritance with full expression in some females and incomplete expression in others. Riccardi (1974) studied the same family and concluded that X-linked dominant inheritance was unlikely because males seemed to be no more severely affected on the average than females. </p><p>Becker et al. (1988) reported a Spanish mother and son with PRPS1 superactivity. The 8-year-old boy had tophaceous gout, purine nucleotide and uric acid overproduction, and sensorineural deafness; his 27-year-old mother had gout. Fibroblast studies showed that the kinetic basis of superactivity in this family was resistance to purine nucleotide inhibition of enzyme activity. The boy was hemizygous, and his mother heterozygous, for the defect. </p><p>Christen et al. (1992) described a family with hyperuricemia and aberrant PRPS activity affecting the mother and 2 sons. Hypertonia and hyperuricemia were recognized in the mother at the age of 20 years; she later developed gouty arthritis. Her 2 sons were born prematurely by cesarean section. Gestational diabetes mellitus was diagnosed during the pregnancy with the first affected son, and both sons were diagnosed as having neonatal diabetes mellitus requiring insulin treatment through early childhood. Both boys showed growth retardation, mental and motor retardation with absent development of speech, muscular hypotonia (especially during the first year of life), cerebellar ataxia, and dysmetria, polyneuropathy with areflexia, and atrophy of the lower legs. All 3 had facial stigmata suggestive of a genetic syndrome, including triangular face with prominent forehead, epicanthus, hypotelorism, beaked nose, broad mouth, and hyperopia. Electroneurography in both boys demonstrated a progressive axonal neuropathy with demyelinization. Hearing was not impaired in any of the three. Crystals of urate could be seen in the diapers and on the tip of the penis in both boys, but both had normal renal function. Findings in fibroblasts and lymphoblasts of both boys suggested superactivity of PRPS due to resistance of the enzyme to nucleotide feedback. </p><p>Moran et al. (2012) described a patient with PRPS1 superactivity as well as features of Arts syndrome (301835), a developmental disorder also caused by mutations in the PRPS1 gene. Laboratory studies showed increased serum uric acid and increased urinary hypoxanthine consistent with PRPS1 superactivity, but he did not have gout. He had developmental delay, hypotonia, areflexia, motor neuropathy, sensorineural hearing loss, and a Chiari I malformation. In addition, he had recurrent infections and early death at age 27 months from infection, consistent with Arts syndrome. A maternal uncle with similar symptoms had died of pneumonia at age 2. </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>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>Becker et al. (1973) concluded that the PRPS mutation that led to gout in a family they studied was autosomal dominant, but in later studies (Yen et al., 1978) presented evidence for X-linkage: a daughter of an affected male had activity of the enzyme in fibroblasts intermediate between the normal and that of affected males. Furthermore, the affected mother showed 2 electrophoretically distinct bands of PRPS1 activity: 1 corresponding to the normal single band and 1 corresponding to the single band of affected males. However, erythrocytes and lymphocytes in the female showed increased synthetase activity of the same magnitude as that in affected males. This suggested nonrandom lyonization in progenitor cells or, more likely, selection against the cells with the wildtype X chromosome as the active one. </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 boy with hyperuricemia, sensorineural deafness, ataxia, and secondary renal insufficiency associated with PRPS1 superactivity reported by Becker et al. (1986), Roessler et al. (1991, 1993) identified mutation in the PRPS1 gene (311850.0001). Biochemical studies in fibroblasts were consistent with PRPS superactivity and purine nucleotide feedback-resistance. </p><p>In a son and mother with PRPS1 superactivity reported by Becker et al. (1980), Roessler et al. (1993) identified a mutation in the PRPS1 gene (311850.0002). Both had sensorineural hearing loss since infancy. </p><p>In a man with PRPS1 superactivity associated only with early-onset gout (Zoref et al., 1975), Becker et al. (1995) identified a hemizygous mutation in the PRPS1 gene (311850.0003). </p><p>In a patient with a complex phenotype comprising Arts syndrome and PRPS1 superactivity, Moran et al. (2012) detected a missense mutation in the transversion in exon 4 of the PRPS1 gene (V142L; 311850.0017). </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>Pathogenesis</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><strong><em>Superactivity Due to Defective Allosteric Regulation of PRPS1</em></strong></p><p>
|
|
Becker et al. (1996) stated that defective allosteric regulation of PRPS1 activity by purine nucleotide inhibitors (such as ADP and GDP) and by the activator P(i) characterizes one kinetically defined class of superactive PRS that result from point mutations in the PRPS1 gene (Becker et al., 1995; Becker et al., 1996). </p><p><strong><em>Catalytic Superactivity of PRPS1</em></strong></p><p>
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|
Becker et al. (1973, 1973) reported 2 brothers with gout and excessive purine synthesis associated with increased intrinsic catalytic activity of the PRPS enzyme. </p><p>Becker et al. (1986) studied fibroblasts and red cells from 4 unrelated males with early-adult onset of hyperuricemia, gout, and uric acid overproduction. The kinetic basis of enzyme superactivity in all patients was determined to be increased maximal reaction velocity. Affinities for substrate activators and responsiveness to inhibitors were normal, and all had increased phosphoribosylpyrophosphate concentration and generation. Cultured fibroblasts of female relatives of 2 patients showed evidence of heterozygosity as measured by enzyme activities and rates of purine synthesis. Altered physical properties of the superactive enzymes suggested that several distinctive variants may be represented. </p><p>Becker et al. (1996) noted that in a second and more frequently encountered class of PRPS superactivity, regulation of enzyme activity by nucleotide inhibitors is normal, as are affinities for substrates and activators such as Mg(2+) and P(i). This so-called inherited 'catalytic' superactivity was unassociated with alteration in the translated sequences of either PRPS1 or PRPS2 cDNA, which is in contrast to PRPS superactivity associated with defective allosteric regulatory properties. Rather, catalytic overactivity of PRPS appeared to reflect increased intracellular concentrations of the normal PRPS1 isoform. Accumulating increases in levels of PRPS1 transcript with entirely normal sequence in cells from affected individuals suggested derangement of a pretranslational mechanism regulating the expression of PRPS1 in catalytic superactivity of PRPS. </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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De Vries and Sperling (1973); Takeuchi et al. (1981); Zoref et al.
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(1976)
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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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Becker, M. A., Kostel, P. J., Meyer, L. J., Seegmiller, J. E.
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<strong>Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis.</strong>
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Proc. Nat. Acad. Sci. 70: 2749-2752, 1973.
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[PubMed: 4200723]
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[Full Text: https://doi.org/10.1073/pnas.70.10.2749]
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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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Becker, M. A., Losman, M. J., Rosenberg, A. L., Mehlman, I., Levinson, D. J., Holmes, E. W.
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<strong>Phosphoribosylpyrophosphate synthetase superactivity: a study of five patients with catalytic defects in the enzyme.</strong>
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Arthritis Rheum. 29: 880-888, 1986.
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[PubMed: 3017368]
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[Full Text: https://doi.org/10.1002/art.1780290710]
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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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Becker, M. A., Losman, M. J., Wilson, J., Simmonds, H. A.
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<strong>Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate.</strong>
|
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Biochim. Biophys. Acta 882: 168-176, 1986.
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[PubMed: 2423135]
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[Full Text: https://doi.org/10.1016/0304-4165(86)90151-0]
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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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Becker, M. A., Meyer, L. J., Seegmiller, J. E.
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<strong>Gout with purine overproduction due to increased phosphoribosylphosphate synthetase activity.</strong>
|
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Am. J. Med. 55: 232-242, 1973.
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[PubMed: 4722859]
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[Full Text: https://doi.org/10.1016/0002-9343(73)90174-5]
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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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Becker, M. A., Meyer, L. J., Wood, A. W., Seegmiller, J. E.
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<strong>Purine overproduction in man associated with increased phosphoribosylpyrophosphate synthetase activity.</strong>
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Science 179: 1123-1126, 1973.
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[PubMed: 4347565]
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[Full Text: https://doi.org/10.1126/science.179.4078.1123]
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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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Becker, M. A., Puig, J. G., Mateos, F. A., Jimenez, M. L., Kim, M., Simmonds, H. A.
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<strong>Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness.</strong>
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Am. J. Med. 85: 383-390, 1988.
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[PubMed: 2843048]
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[Full Text: https://doi.org/10.1016/0002-9343(88)90591-8]
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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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Becker, M. A., Raivio, K. O., Bakay, B., Adams, W. B., Nyhan, W. L.
|
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<strong>Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions.</strong>
|
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J. Clin. Invest. 65: 109-120, 1980.
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[PubMed: 6243137]
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[Full Text: https://doi.org/10.1172/JCI109640]
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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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Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L.
|
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<strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong>
|
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J. Clin. Invest. 96: 2133-2141, 1995.
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[PubMed: 7593598]
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[Full Text: https://doi.org/10.1172/JCI118267]
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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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Becker, M. A., Taylor, W., Smith, P. R., Ahmed, M.
|
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<strong>Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase.</strong>
|
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J. Biol. Chem. 271: 19894-19899, 1996.
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[PubMed: 8702702]
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[Full Text: https://doi.org/10.1074/jbc.271.33.19894]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Becker, M. A.
|
|
<strong>Hyperuricemia and Gout. 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. P. 2625.
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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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Christen, H.-J., Hanefeld, F., Duley, J. A., Simmonds, H. A.
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Zoref, E., De Vries, A., Sperling, O.
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Zoref, E., De Vries, A., Sperling, O.
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