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Entry
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- #259900 - HYPEROXALURIA, PRIMARY, TYPE I; HP1
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- OMIM
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<p>
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<span class="h4">#259900</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/259900"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS259900"> <strong>Phenotypic Series</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="#biochemicalFeatures">Biochemical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#clinicalManagement">Clinical Management</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</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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<li role="presentation">
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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>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=HYPEROXALURIA, PRIMARY, TYPE I" 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=3529&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Primary hyperoxaluria </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12431&Typ=Pat" title="Primary hyperoxaluria type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Primary hyperoxaluria type… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1283/" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=259900[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=416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Primary hyperoxaluria</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93598" title="Primary hyperoxaluria type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Primary hyperoxaluria type…</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111670" 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/259900" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001672/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111670" 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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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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</span>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:259900" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 65520001<br />
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<strong>ORPHA:</strong> 416, 93598<br />
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<strong>DO:</strong> 0111670<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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259900
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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HYPEROXALURIA, PRIMARY, TYPE I; HP1
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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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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OXALOSIS I<br />
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GLYCOLIC ACIDURIA<br />
|
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ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY<br />
|
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PEROXISOMAL ALANINE:GLYOXYLATE AMINOTRANSFERASE DEFICIENCY<br />
|
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HEPATIC AGT DEFICIENCY<br />
|
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SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY
|
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</span>
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</h4>
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</div>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
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|
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</div>
|
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|
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|
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<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/2/1178?start=-3&limit=10&highlight=1178">
|
|
2q37.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hyperoxaluria, primary, type 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/259900"> 259900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
|
|
AGXT
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604285"> 604285 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/259900" 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">
|
|
|
|
<a href="/phenotypicSeries/PS259900" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', '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/259900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/259900" 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">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</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> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br /> -
|
|
Retinopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29555009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29555009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/362.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">362.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035309</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000479" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000479</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000488" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000488</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000488" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000488</a>]</span><br /> -
|
|
Choroidal neovascularization <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600518</a>, <a href="https://bioportal.bioontology.org/search?q=C5574745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574745</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011506" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011506</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011506" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011506</a>]</span><br /> -
|
|
Vision impairment, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232454&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232454</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7973008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7973008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397540003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397540003</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Root resorption <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035851&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035851</a>]</span><br /> -
|
|
Pulp exposure <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852170</a>]</span><br /> -
|
|
Tooth mobility <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83001001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83001001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040445&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040445</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Heart block <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164898000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164898000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233916004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233916004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I45.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I45.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018794&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018794</a>, <a href="https://bioportal.bioontology.org/search?q=C0344413&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344413</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012722" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012722</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012722" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012722</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Peripheral vascular insufficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1401086&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1401086</a>]</span><br /> -
|
|
Arterial spasm <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3750006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3750006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I73.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I73.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085617</a>]</span><br /> -
|
|
Arterial occlusion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2929001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2929001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0264995&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264995</a>, <a href="https://bioportal.bioontology.org/search?q=C3693351&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3693351</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025324</a>]</span><br /> -
|
|
Raynaud phenomenon <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/266261006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">266261006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I73.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I73.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/443.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">443.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034735</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030880" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030880</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030880" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030880</a>]</span><br /> -
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Intermittent claudication <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63491006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63491006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I73.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I73.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0021775&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021775</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004417</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004417</a>]</span><br /> -
|
|
Gangrene <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/372070002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">372070002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36024000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36024000</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/785.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">785.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017086&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017086</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100758" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100758</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100758" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100758</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> GENITOURINARY </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Kidneys </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- Calcium oxalate urolithiasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444717006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444717006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833683&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833683</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008672" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008672</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008672" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008672</a>]</span><br /> -
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Nephrocalcinosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48638002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48638002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027709&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027709</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000121" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000121</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000121" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000121</a>]</span><br /> -
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|
Hematuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53298000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53298000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34436003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34436003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R31.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R31.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/599.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.7</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/599.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.70</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018965&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018965</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000790</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000790</a>]</span><br /> -
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|
Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Bone pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12584003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12584003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151825&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151825</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002653</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002653</a>]</span><br /> -
|
|
Pathologic fractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22640007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22640007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268029009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268029009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M84.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M84.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V13.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V13.51</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016663&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016663</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002756</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002756</a>]</span><br /> -
|
|
Osteosclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49347007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49347007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q78.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q78.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029464&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029464</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011001</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Livedo reticularis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238772004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238772004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085642&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085642</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033505</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033505</a>]</span><br /> -
|
|
Calcinosis cutis metastatica <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749448&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749448</a>]</span><br /> -
|
|
Acrocyanosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25003006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25003006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I73.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I73.89</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221347</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001063</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001063</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
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- Peripheral neuropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42658009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42658009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302226006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302226006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G64" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G64</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/350-359.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">350-359.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4721453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4721453</a>, <a href="https://bioportal.bioontology.org/search?q=C0031117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009830" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009830</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000759" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000759</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001271" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001271</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009830" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009830</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> METABOLIC FEATURES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Metabolic acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59455009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59455009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220981</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hyperoxaluria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367621000119107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367621000119107</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E72.53" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E72.53</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R82.992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R82.992</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020500&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020500</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003159</a>]</span><br /> -
|
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Hyperoxalemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853310</a>]</span><br /> -
|
|
Hyperglycolic aciduria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749445&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749445</a>]</span><br /> -
|
|
Diffuse deposition of calcium oxalate in various tissues <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749446</a>]</span><br /> -
|
|
Decreased AGT activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749447</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
|
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|
|
- Variable age at onset, but usually in childhood<br /> -
|
|
Most patients die of renal failure in early adulthood<br /> -
|
|
About 10% of patients have a severe early onset in the first months of life<br /> -
|
|
Incidence of 1 in 120,000 live births<br />
|
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|
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
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|
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- Caused by mutation in the alanine-glyoxylate aminotransferase gene (AGXT, <a href="/entry/604285#0001">604285.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
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<h5>
|
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Hyperoxaluria, primary
|
|
- <a href="/phenotypicSeries/PS259900">PS259900</a>
|
|
- 3 Entries
|
|
</h5>
|
|
</div>
|
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</div>
|
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|
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
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</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
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<a href="/geneMap/2/1178?start=-3&limit=10&highlight=1178"> 2q37.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/259900"> Hyperoxaluria, primary, type 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
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</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">
|
|
<a href="/entry/259900"> 259900 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604285"> AGXT </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604285"> 604285 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/191?start=-3&limit=10&highlight=191"> 9p13.2 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/260000"> Hyperoxaluria, primary, type II </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/260000"> 260000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604296"> GRHPR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604296"> 604296 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/450?start=-3&limit=10&highlight=450"> 10q24.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613616"> Hyperoxaluria, primary, type III </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
|
|
<a href="/entry/613616"> 613616 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613597"> HOGA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613597"> 613597 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
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|
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</tbody>
|
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</table>
|
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</div>
|
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|
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<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
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</div>
|
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<a id="text" class="mim-anchor"></a>
|
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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|
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</span>
|
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</h4>
|
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<div id="mimTextFold" class="collapse in ">
|
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that type I primary hyperoxaluria (HP1) is caused by homozygous or compound heterozygous mutation in the gene encoding alanine-glyoxylate aminotransferase (AGXT; <a href="/entry/604285">604285</a>) on chromosome 2q37.</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>
|
|
<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>Primary hyperoxaluria type I is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in various bodily tissues, especially the kidney, resulting in renal failure. Affected individuals have decreased or absent AGXT activity and a failure to transaminate glyoxylate, which causes the accumulated glyoxylate to be oxidized to oxalate. This overproduction of oxalate results in the accumulation of nonsoluble calcium oxalate in various body tissues, with pathologic sequelae (<a href="#40" class="mim-tip-reference" title="Takada, Y., Kaneko, N., Esumi, H., Purdue, P. E., Danpure, C. J. <strong>Human peroxisomal L-alanine:glyoxylate aminotransferase: evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon.</strong> Biochem. J. 268: 517-520, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2363689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2363689</a>] [<a href="https://doi.org/10.1042/bj2680517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2363689">Takada et al., 1990</a>; <a href="#8" class="mim-tip-reference" title="Danpure, C. J., Cooper, P. J., Wise, P. J., Jennings, P. R. <strong>An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria.</strong> J. Cell Biol. 108: 1345-1352, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2925788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2925788</a>] [<a href="https://doi.org/10.1083/jcb.108.4.1345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2925788">Danpure et al., 1989</a>; <a href="#46" class="mim-tip-reference" title="Williams, E. L., Acquaviva, C., Amoroso, A., Chevalier, F., Coulter-Mackie, M., Monico, C. G., Giachino, D., Owen, T., Robbiano, A., Salido, E., Waterham, H., Rumsby, G. <strong>Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.</strong> Hum. Mutat. 30: 910-917, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19479957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19479957</a>] [<a href="https://doi.org/10.1002/humu.21021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19479957">Williams et al., 2009</a>) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2363689+2925788+19479957" 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>Genetic Heterogeneity of Primary Hyperoxaluria</em></strong></p><p>
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Type II primary hyperoxaluria (HP2; <a href="/entry/260000">260000</a>) is caused by mutation in the glyoxylate reductase/hydroxypyruvate reductase gene (GRHPR; <a href="/entry/604296">604296</a>) on chromosome 9. Type III primary hyperoxaluria (HP3; <a href="/entry/613616">613616</a>) is caused by mutation in the mitochondrial dihydrodipicolinate synthase-like gene (DHDPSL; <a href="/entry/613597">613597</a>) on chromosome 10q24.</p>
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<p><a href="#47" class="mim-tip-reference" title="Williams, H. E., Smith, L. H., Jr. <strong>L-glyceric aciduria: new genetic variant of primary hyperoxaluria.</strong> New Eng. J. Med. 278: 233-239, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5635456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5635456</a>] [<a href="https://doi.org/10.1056/NEJM196802012780502" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5635456">Williams and Smith (1968)</a> were able to distinguish 2 distinct genetic disorders among cases of primary hyperoxaluria. The largest proportion of patients had glycolic aciduria and hyperoxaluria, marked reduction in metabolism of C14-labeled glyoxylate or glycolate to carbon dioxide, increased conversion of glyoxylate to urinary glycolate, and a defect of the enzyme-soluble 2-oxo-glutarate:glyoxylate carboligase. However, later work (<a href="#13" class="mim-tip-reference" title="Danpure, C. J., Purkiss, P., Jennings, P. R., Watts, R. W. E. <strong>Mitochondrial damage and the subcellular distribution of 2-oxoglutarate:glyoxylate carboligase in normal human and rat liver and in the liver of a patient with primary hyperoxaluria type I.</strong> Clin. Sci. (Lond) 70: 417-425, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3009079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3009079</a>] [<a href="https://doi.org/10.1042/cs0700417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3009079">Danpure et al., 1986</a>; <a href="#12" class="mim-tip-reference" title="Danpure, C. J., Jennings, P. R. <strong>Further studies on the activity and subcellular distribution of alanine:glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1.</strong> Clin. Sci. (Lond) 75: 315-322, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3416563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3416563</a>] [<a href="https://doi.org/10.1042/cs0750315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3416563">Danpure and Jennings, 1988</a>) indicated that 2-oxo-glutarate:glyoxylate carboligase is probably the same gene product as the mitochondrial matrix enzyme 2-oxoglutarate dehydrogenase (OGDH; see <a href="/entry/203750">203750</a>); that the so-called soluble carboligase was probably an artifact caused by mitochondrial damage; and that in any case the latter is not deficient in this disorder. <a href="#47" class="mim-tip-reference" title="Williams, H. E., Smith, L. H., Jr. <strong>L-glyceric aciduria: new genetic variant of primary hyperoxaluria.</strong> New Eng. J. Med. 278: 233-239, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5635456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5635456</a>] [<a href="https://doi.org/10.1056/NEJM196802012780502" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5635456">Williams and Smith (1968)</a> found that another group of patients with primary hyperoxaluria excreted normal amounts of glycolic acid but large amounts of l-glyceric acid, more consistent with HP2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3009079+3416563+5635456" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Lindenmayer, J. P. <strong>L'heredite dans l'oxalose familiale.</strong> J. Genet. Hum. 18: 31-44, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5516286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5516286</a>]" pmid="5516286">Lindenmayer (1970)</a> reported on 4 cases of oxalosis in 3 sibships. He traced 5 of the 6 parents to a common ancestral couple born in the 1700s. A useful review of published cases was provided. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5516286" 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="Coltart, D. J., Hudson, R. E. B. <strong>Primary oxalosis of the heart: a cause of heart block.</strong> Brit. Heart J. 33: 315-319, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5572669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5572669</a>] [<a href="https://doi.org/10.1136/hrt.33.2.315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5572669">Coltart and Hudson (1971)</a> reported a girl with oxalosis in whom deposition of oxalate in the cardiac conduction system caused fatal heart block. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5572669" 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="#3" class="mim-tip-reference" title="Boquist, L., Lindqvist, B., Ostberg, Y., Steen, L. <strong>Primary oxalosis.</strong> Am. J. Med. 54: 673-681, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4701948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4701948</a>] [<a href="https://doi.org/10.1016/0002-9343(73)90126-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4701948">Boquist et al. (1973)</a> reported a 46-year-old man with primary oxalosis who had onset of symptoms as an adult characterized by elevated levels of serum and urinary oxalic acid, as well as increased urinary excretion of glycolic and glyoxylic acid. He developed uremia and was treated with dialysis, but the disease progressed, with the appearance of polyneuropathy and peripheral ischemic changes leading to atrophy and gangrene. He died in uremia after 14 months of hemodialysis. <a href="#3" class="mim-tip-reference" title="Boquist, L., Lindqvist, B., Ostberg, Y., Steen, L. <strong>Primary oxalosis.</strong> Am. J. Med. 54: 673-681, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4701948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4701948</a>] [<a href="https://doi.org/10.1016/0002-9343(73)90126-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4701948">Boquist et al. (1973)</a> suggested that hemodialysis should not be utilized in patients with primary oxalosis. There was a family history of the disorder. Postmortem examination showed calcium oxalate deposits in the kidneys, including the glomeruli, interstitium, and tubular epithelial cells and lumens, myocardium, spongy bone, prostate, testes, striated muscles, aorta, inferior vena caval vein, and in numerous arteries and arterioles. The oxalate crystals were believed to be primarily formed intracellularly in the various organs. Additional findings were chronic pyelonephritis, degeneration of peripheral nerve fibers and perineural fibrosis. There was a family history of the disorder. The authors noted the unusually long survival of this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4701948" 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="#17" class="mim-tip-reference" title="Dennis, A. J., Jr., Hudson, J. B., Humphries, A. L., Dasgupta, G., Wray, C. H. <strong>Nitroglycerin as a remedy for peripheral vascular insufficiency associated with oxalosis.</strong> Ann. Intern. Med. 92: 799-800, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6770732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6770732</a>] [<a href="https://doi.org/10.7326/0003-4819-92-6-799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6770732">Dennis et al. (1980)</a> found that another complication of the disorder is peripheral vascular insufficiency resulting from spasm or arterial occlusion. Raynaud phenomenon, livedo reticularis, acrocyanosis, spasms of large arteries, gangrene and intermittent claudication have also been reported (<a href="#17" class="mim-tip-reference" title="Dennis, A. J., Jr., Hudson, J. B., Humphries, A. L., Dasgupta, G., Wray, C. H. <strong>Nitroglycerin as a remedy for peripheral vascular insufficiency associated with oxalosis.</strong> Ann. Intern. Med. 92: 799-800, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6770732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6770732</a>] [<a href="https://doi.org/10.7326/0003-4819-92-6-799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6770732">Dennis et al., 1980</a>); these are late complications in patients with uremia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6770732" 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="#32" class="mim-tip-reference" title="Morris, M. C., Chambers, T. L., Evans, P. W. G., Malleson, P. N., Pincott, J. R., Rose, G. A. <strong>Oxalosis in infancy.</strong> Arch. Dis. Child. 57: 224-228, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7073302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7073302</a>] [<a href="https://doi.org/10.1136/adc.57.3.224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7073302">Morris et al. (1982)</a> reported 3 infants with nephrocalcinosis and terminal renal failure due to oxalosis. All 3 had widespread oxalate deposition. Although biochemical evidence of primary hyperoxaluria was sought, the presence of severe renal failure and the lack of established normal values for urinary and plasma oxalate and glycollate in infants made the diagnosis difficult to establish. At least 1 patient appeared to have type I, since plasma glycolate was elevated. <a href="#32" class="mim-tip-reference" title="Morris, M. C., Chambers, T. L., Evans, P. W. G., Malleson, P. N., Pincott, J. R., Rose, G. A. <strong>Oxalosis in infancy.</strong> Arch. Dis. Child. 57: 224-228, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7073302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7073302</a>] [<a href="https://doi.org/10.1136/adc.57.3.224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7073302">Morris et al. (1982)</a> commented that it was unusual for primary oxalosis to display so early an onset and so rapid a course. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7073302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Chesney, R. W., Friedman, A. L., Breed, A. L., Langer, L. O., Jr., Gilbert, E. F., Opitz, J. M. <strong>Clinicopathological conference: renal failure with hypercalcemia, renal stones, multiple pathologic fractures, and growth failure.</strong> Am. J. Med. Genet. 14: 169-179, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6829606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6829606</a>] [<a href="https://doi.org/10.1002/ajmg.1320140123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6829606">Chesney et al. (1983)</a> reported a girl with HP1 who presented with renal failure at age 5 years and underwent bilateral renal transplants. A large radiopaque stone developed in 1 ureter after surgery. She had frequent pathologic fractures through large radiolucent areas that initially were interpreted as osteitis fibrosa cystica, but were found histologically to be areas of massive calcium oxalate deposition with localized histiocytic destruction of bone. The patient also had extensive soft-tissue calcification limiting motion in several joints. Material extruded from some of these deposits represented oxalates. Calcium oxalate crystals were extruded from under the patient's nails. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6829606" 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="#8" class="mim-tip-reference" title="Danpure, C. J., Cooper, P. J., Wise, P. J., Jennings, P. R. <strong>An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria.</strong> J. Cell Biol. 108: 1345-1352, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2925788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2925788</a>] [<a href="https://doi.org/10.1083/jcb.108.4.1345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2925788">Danpure et al. (1989)</a> reported 2 unrelated patients with HP1. One was a 16-year-old boy with a history of calcium oxalate kidney stones, hyperoxaluria, and hyperglycolic aciduria who had reached end-stage renal failure and was on dialysis. Residual AGXT activity was 8.7%. The second patient was a 33-year-old man with a milder form of the disorder, a history of calcium oxalate kidney stones, and a favorable response to pyridoxine treatment. Residual AGXT activity was 27.1%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2925788" 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="#39" class="mim-tip-reference" title="Small, K. W., Letson, R., Scheinman, J. <strong>Ocular findings in primary hyperoxaluria.</strong> Arch. Ophthal. 108: 89-93, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2297338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2297338</a>] [<a href="https://doi.org/10.1001/archopht.1990.01070030095036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2297338">Small et al. (1990)</a> examined 24 patients with primary hyperoxaluria and found that 8 had a crystalline retinopathy; 3 of the 8 also had optic neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2297338" 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="#41" class="mim-tip-reference" title="Theodossiadis, P. G., Friberg, T. R., Panagiotidis, D. N., Gogas, P. S., Pantelia, E. M., Moschos, M. N. <strong>Choroidal neovascularization in primary hyperoxaluria.</strong> Am. J. Ophthal. 134: 134-137, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12095827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12095827</a>] [<a href="https://doi.org/10.1016/s0002-9394(02)01458-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12095827">Theodossiadis et al. (2002)</a> reported a 22-year-old man with type I primary hyperoxaluria who developed slowly progressive visual loss due to crystalline retinopathy. He then developed rapid, severe visual loss in both eyes. Fluorescein angiography confirmed the presence of choroidal neovascularization in both eyes at the edges of his previous macular scars. The authors concluded that mechanical factors from oxalate deposition may promote choroidal neovascularization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12095827" 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="#11" class="mim-tip-reference" title="Danpure, C. J., Jennings, P. R. <strong>Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I.</strong> FEBS Lett. 201: 20-24, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3709805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3709805</a>] [<a href="https://doi.org/10.1016/0014-5793(86)80563-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3709805">Danpure and Jennings (1986)</a> demonstrated that total alanine:glyoxylate aminotransferase levels were reduced in 2 patients with primary hyperoxaluria type I. In 1 patient, reduction in enzyme activity was found to be due to complete absence of the peroxisomal form of the enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3709805" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Danpure, C. J., Jennings, P. R., Watts, R. W. E. <strong>Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine:glyoxylate aminotransferase activity.</strong> Lancet 329: 289-291, 1987. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2880111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2880111</a>] [<a href="https://doi.org/10.1016/s0140-6736(87)92023-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2880111">Danpure et al. (1987)</a> found that AGT activity, assayed in unfractionated liver tissue, ranged from 11 to 47% of the mean control value and appeared to be related to the clinical severity of the disorder and to several biochemical variables that indicate the degree of pathophysiologic derangement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2880111" 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="#15" class="mim-tip-reference" title="Danpure, C. J. <strong>Personal Communication.</strong> Middlesex, England 6/16/1988."None>Danpure (1988)</a> indicated that deficiency of AGT had been demonstrated in 27 patients with this disorder. The finding is compatible with earlier work showing that a few patients respond to pyridoxine; pyridoxal phosphate is a cofactor for AGT. Both soluble and mitochondrial alpha-ketoglutarate glyoxylate carboligase activity of muscle were normal in a patient with l-glycolic hyperoxaluria reported by <a href="#4" class="mim-tip-reference" title="Bourke, E., Frindt, G., Flynn, P., Schreiner, G. E. <strong>Primary hyperoxaluria with normal alpha-ketoglutarate:glyoxylate carboligase activity: treatment with isocarboxazid.</strong> Ann. Intern. Med. 76: 279-284, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5009594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5009594</a>] [<a href="https://doi.org/10.7326/0003-4819-76-2-279" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5009594">Bourke et al. (1972)</a>. The patient may have suffered from a different disorder, or the enzyme of muscle may be an isozyme of that in liver, spleen and kidney which was deficient in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5009594" 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 liver tissue isolated from a patient with a severe form of HP1 with 8.7% residual AGXT activity, <a href="#8" class="mim-tip-reference" title="Danpure, C. J., Cooper, P. J., Wise, P. J., Jennings, P. R. <strong>An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria.</strong> J. Cell Biol. 108: 1345-1352, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2925788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2925788</a>] [<a href="https://doi.org/10.1083/jcb.108.4.1345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2925788">Danpure et al. (1989)</a> showed that the AGXT activity was entirely within mitochondria, rather than in peroxisomes. In contrast, control liver AGXT was localized entirely within peroxisomes. The findings indicated that the defect resulted from intracellular rerouting of the AGXT enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2925788" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Danpure, C. J. <strong>Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase.</strong> Biochimie 75: 309-315, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8507692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8507692</a>] [<a href="https://doi.org/10.1016/0300-9084(93)90091-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8507692">Danpure (1993)</a> published a review of primary hyperoxaluria type 1, including a discussion of mitochondrial targeting sequences and peroxisomal targeting sequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8507692" 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="#49" class="mim-tip-reference" title="Yendt, E. R., Cohanim, M. <strong>Response to a physiologic dose of pyridoxine in type I primary hyperoxaluria.</strong> New Eng. J. Med. 312: 953-957, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3974685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3974685</a>] [<a href="https://doi.org/10.1056/NEJM198504113121504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3974685">Yendt and Cohanim (1985)</a> noted that the diagnosis in some screened patients may be obscured if the subject is ingesting a pyridoxine-rich diet or multivitamin tablets containing even small amounts of pyridoxine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3974685" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Danpure, C. J., Jennings, P. R., Watts, R. W. E. <strong>Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine:glyoxylate aminotransferase activity.</strong> Lancet 329: 289-291, 1987. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2880111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2880111</a>] [<a href="https://doi.org/10.1016/s0140-6736(87)92023-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2880111">Danpure et al. (1987)</a> suggested that this disorder can be diagnosed by percutaneous hepatic needle biopsy in assay of AGT, the activity of which may be useful in determining the prognosis and likely severity of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2880111" 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>Prenatal Diagnosis</em></strong></p><p>
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<a href="#9" class="mim-tip-reference" title="Danpure, C. J., Jennings, P. R., Penketh, R. J., Wise, P. J., Rodeck, C. H. <strong>Prenatal exclusion of primary hyperoxaluria type 1. (Letter)</strong> Lancet 331: 367 only, 1988. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2893183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2893183</a>] [<a href="https://doi.org/10.1016/s0140-6736(88)91171-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2893183">Danpure et al. (1988)</a> showed that prenatal diagnosis can be made by study of fetal liver tissue obtained by ultrasound-guided needle aspiration. They were able to exclude the diagnosis by the finding of normal AGT activity and normal immunoreactive AGT protein in the liver of a fetus at risk. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2893183" 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="#14" class="mim-tip-reference" title="Danpure, C. J., Rumsby, G. <strong>Strategies for the prenatal diagnosis of primary hyperoxaluria type 1.</strong> Prenatal Diag. 16: 587-598, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8843467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8843467</a>] [<a href="https://doi.org/10.1002/(SICI)1097-0223(199607)16:7<587::AID-PD925>3.0.CO;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8843467">Danpure and Rumsby (1996)</a> reviewed the strategies that had been adopted over the previous 13 years for the prenatal diagnosis of this disorder. These included (1) glyoxylate metabolite analysis of amniotic fluid in the second trimester; (2) AGT enzyme assay, immunoassay, and immunoelectron microscopy of fetal liver biopsies, also in the second trimester; and (3) linkage and mutation analysis of DNA isolated from chorionic villus samples in the first trimester. The methods have evolved in parallel with increasing understanding of the molecular etiology and pathogenesis of the disease. <a href="#14" class="mim-tip-reference" title="Danpure, C. J., Rumsby, G. <strong>Strategies for the prenatal diagnosis of primary hyperoxaluria type 1.</strong> Prenatal Diag. 16: 587-598, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8843467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8843467</a>] [<a href="https://doi.org/10.1002/(SICI)1097-0223(199607)16:7<587::AID-PD925>3.0.CO;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8843467">Danpure and Rumsby (1996)</a> stated that, although the usefulness of metabolite analysis remained unproven, all the other methods had been successfully applied to the prenatal diagnosis of this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8843467" 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="#45" class="mim-tip-reference" title="Will, E. J., Bijvoet, O. L. M. <strong>Primary oxalosis: clinical and biochemical response to high-dose pyridoxine therapy.</strong> Metabolism 28: 542-548, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/449695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">449695</a>] [<a href="https://doi.org/10.1016/0026-0495(79)90195-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="449695">Will and Bijvoet (1979)</a> observed favorable clinical and biochemical response to oral B6 treatment in primary hyperoxaluria. Pyridoxine (B6) is a cofactor in the alanine-glyoxylate transaminase enzyme pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=449695" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 patients with type I primary hyperoxaluria, <a href="#49" class="mim-tip-reference" title="Yendt, E. R., Cohanim, M. <strong>Response to a physiologic dose of pyridoxine in type I primary hyperoxaluria.</strong> New Eng. J. Med. 312: 953-957, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3974685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3974685</a>] [<a href="https://doi.org/10.1056/NEJM198504113121504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3974685">Yendt and Cohanim (1985)</a> found that pyridoxine in a physiologic dose of 2 mg per day caused a marked fall in urinary oxalate and glycolate excretion and that excretion became completely normal when the dose was increased to 25 mg per day. In 2 other patients, who also differed by having normal urinary glycolate excretion, higher doses of pyridoxine were required: in 1, 200 mg per day produced moderate reduction in oxalate excretion and in the other, 25 mg per day had that effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3974685" 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>Pyridoxine in high dosage is beneficial (<a href="#35" class="mim-tip-reference" title="O'Regan, P. F. B., Joekes, A. M. <strong>Primary hyperoxaluria. (Editorial)</strong> J. Roy. Soc. Med. 73: 541-544, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7014893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7014893</a>] [<a href="https://doi.org/10.1177/014107688007300801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7014893">O'Regan and Joekes, 1980</a>), but since sensory neuropathy from high doses of pyridoxine has been observed (<a href="#2" class="mim-tip-reference" title="Berger, A., Schaumburg, H. H. <strong>More on neuropathy from pyridoxine abuse.</strong> New Eng. J. Med. 311: 986-987, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6472428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6472428</a>]" pmid="6472428">Berger and Schaumburg, 1984</a>), use of low dosage is desirable. Orthophosphate prevents the progress of calcium oxalate stones. Small doses of a thiazide diuretic may be useful. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6472428+7014893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Milliner, D. S., Eickholt, J. T., Bergstralh, E. J., Wilson, D. M., Smith, L. H. <strong>Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluria.</strong> New Eng. J. Med. 331: 1553-1558, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7969325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7969325</a>] [<a href="https://doi.org/10.1056/NEJM199412083312304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7969325">Milliner et al. (1994)</a> reported experience with the treatment of primary hyperoxaluria with orthophosphate and pyridoxine in 25 patients treated for an average of 10 years (range, 0.3 to 26). They concluded that double therapy decreases urinary calcium oxalate crystallization and helps preserve renal function. Pyridoxine may be helpful even when renal failure has set in. If renal transplantation is necessary, these measures may help avoid damage to the transplanted kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7969325" 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>RNAi Therapeutics</em></strong></p><p>
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<a href="#21" class="mim-tip-reference" title="Garrelfs, S. F., Frishberg, Y., Hulton, S. A., Koren, M. J., O'Riordan, W. D., Cochat, P., Deschenes, G., Shasha-Lavsky, H., Saland, J. M., van't Hoff, W. G., Fuster, D. G., Magen, D., and 13 others. <strong>Lumasiran, an RNAi therapeutic for primary hyperoxaluria type 1.</strong> New Eng J Med 384: 1216-1226, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33789010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33789010</a>] [<a href="https://doi.org/10.1056/NEJMoa2021712" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33789010">Garrelfs et al. (2021)</a> reported the results of a double-blind phase 3 clinical trial of the use of subcutaneous lumasiran, an RNA interference (RNAi) therapeutic agent, versus placebo in patients with HP1 who were 6 years of age or older. Among the 26 patients randomly assigned to the lumasiran group, the percentage reduction in 24-hour urinary oxalate excretion was 53.5 percentage points greater than among the 13 patients who received placebo (p less than 0.001), with effects observed as early as month 1. Most patients who received lumasiran had normal or near-normal urinary oxalate levels at month 6. Treatment also substantially reduced plasma oxalate levels. The principal adverse events were mild, transient injection-site reactions, seen in 38% of patients. No serious adverse events or deaths were associated with lumasiran treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33789010" 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>Renal and Hepatic Transplantation</em></strong></p><p>
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<a href="#24" class="mim-tip-reference" title="Klauwers, J., Wolf, P. L., Cohn, R. <strong>Renal transplantation in primary oxalosis.</strong> JAMA 209: 551 only, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4893617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4893617</a>]" pmid="4893617">Klauwers et al. (1969)</a> had demonstrated that renal transplantation in primary oxalosis is unsuccessful because the donor kidney becomes involved, causing functional failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4893617" 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="#44" class="mim-tip-reference" title="Watts, R. W. E., Calne, R. Y., Williams, R., Mansell, M. A., Veall, N., Purkiss, P., Rolles, K. <strong>Primary hyperoxaluria (type I): attempted treatment by combined hepatic and renal transplantation.</strong> Quart. J. Med. 57: 697-703, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3909198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3909198</a>]" pmid="3909198">Watts et al. (1985)</a> reported failure of renal transplant because of oxalate deposits. Thereafter, combined liver and renal transplantation was done. The postoperative observations were compatible with correction of the metabolic lesion by the grafted liver; the patient died of complications of immunosuppressive therapy. <a href="#43" class="mim-tip-reference" title="Watts, R. W. E., Calne, R. Y., Rolles, K., Danpure, C. J., Morgan, S. H., Mansell, M. A., Williams, R., Purkiss, P. <strong>Successful treatment of primary hyperoxaluria type I by combined hepatic and renal transplantation.</strong> Lancet 330: 474-475, 1987. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2887776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2887776</a>] [<a href="https://doi.org/10.1016/s0140-6736(87)91791-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2887776">Watts et al. (1987)</a> reported the successful treatment of a 23-year-old patient with combined hepatic and renal transplantation. The metabolic lesion was corrected by replacement of the deficient hepatic enzyme activity. Two previous renal transplants had failed, including 1 from a live, related donor. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2887776+3909198" 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="#30" class="mim-tip-reference" title="McDonald, J. C., Landreneau, M. D., Rohr, M. S., DeVault, G. A., Jr. <strong>Reversal by liver transplantation of the complications of primary hyperoxaluria as well as the metabolic defect.</strong> New Eng. J. Med. 321: 1100-1103, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2797068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2797068</a>] [<a href="https://doi.org/10.1056/NEJM198910193211607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2797068">McDonald et al. (1989)</a> described a 38-year-old man in whom kidney transplantation and later liver transplantation were performed with correction of the metabolic defect and resorption of deposits of oxalate in the renal allograft. This patient was described also by <a href="#1" class="mim-tip-reference" title="Baethge, B. A., Sanusi, I. D., Landreneau, M. D., Rohr, M. S., McDonald, J. C. <strong>Livedo reticularis and peripheral gangrene associated with primary hyperoxaluria.</strong> Arthritis Rheum. 31: 1199-1203, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3422018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3422018</a>] [<a href="https://doi.org/10.1002/art.1780310919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3422018">Baethge et al. (1988)</a> as an instance of livedo reticularis and peripheral gangrene due to oxalate sludge. The patient also had third-degree heart block, a recognized complication of oxalosis (<a href="#29" class="mim-tip-reference" title="Massie, B. M., Bharati, S., Scheinman, M. M., Lev, M., Desai, J., Rubeson, E., Schmidt, W. <strong>Primary oxalosis with panconduction cardiac disease: electrophysiologic and anatomic correlation.</strong> Circulation 64: 845-852, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6456088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6456088</a>] [<a href="https://doi.org/10.1161/01.cir.64.4.845" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6456088">Massie et al., 1981</a>), which resolved after transplantation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3422018+6456088+2797068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Latta, K., Brodehl, J. <strong>Primary hyperoxaluria type I.</strong> Europ. J. Pediat. 149: 518-522, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2189732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2189732</a>] [<a href="https://doi.org/10.1007/BF01957682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2189732">Latta and Brodehl (1990)</a> reviewed the disorder on the basis of data from 330 published cases. They emphasized that whereas kidney transplantation is associated with a high rate of recurrence, liver transplantation offers the possibility of correcting the metabolic defect and preventing progression of crystal deposits. Attempts at prenatal diagnosis by analysis of organic acids in amniotic fluid have been unsuccessful. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2189732" 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="#22" class="mim-tip-reference" title="Gruessner, R. W. <strong>Preemptive liver transplantation from a living related donor for primary hyperoxaluria type I. (Letter)</strong> New Eng. J. Med. 338: 1924 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9643991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9643991</a>] [<a href="https://doi.org/10.1056/NEJM199806253382615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9643991">Gruessner (1998)</a> described a 22-month-old child with primary hyperoxaluria type I who received a liver transplant from her father. Eight months after transplantation and despite the use of nephrotoxic tacrolimus-based immunosuppressive therapy, her kidney function was stable, without the need for dialysis or kidney transplantation. The patient had presented at 5 weeks of age with dehydration, uremia, and nephrocalcinosis, as demonstrated by ultrasound. Kidney biopsy at the time of transplantation of the 320-gm liver from the father showed moderate to severe oxalosis. Eight months after transplantation, the urine oxalate concentration was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9643991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Walden, U., Boswald, M., Dorr, H. G., Ruder, H. <strong>Primary hyperoxaluria 1: catch up growth and normalization of oxaluria 6 years after hepatorenal transplantation in a prepubertal boy.</strong> Europ. J. Pediat. 158: 727-729, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10485304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10485304</a>] [<a href="https://doi.org/10.1007/s004310051188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10485304">Walden et al. (1999)</a> reported a 6-year follow-up of a 10-year-old male patient who underwent hepatorenal transplantation at the age of 4 years. The boy showed significant catch-up growth, with height standard deviation score for chronologic age improving from -2.4 before transplantation to -0.3 after 6 years. Radiologic bone density improved at the same time. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10485304" 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="Cochat, P., Koch Nogueira, P. C., Mahmoud, M. A., Jamieson, N. V., Scheinman, J. I., Rolland, M.-O. <strong>Primary hyperoxaluria in infants: medical, ethical, and economic issues.</strong> J. Pediat. 135: 746-750, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10586179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10586179</a>] [<a href="https://doi.org/10.1016/s0022-3476(99)70095-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10586179">Cochat et al. (1999)</a> conducted a questionnaire survey of cases of primary hyperoxaluria type I in specialized centers worldwide. They identified 78 infants, of whom 44% were of Muslim origin and 56% were non-Muslim. The consanguinity rate was 76% and 0%, respectively. Thirty-three percent were treated in developing countries (group 1) and 67% in developed countries (group 2). Initial presentation (4.9 +/- 2.8 months) consisted of failure to thrive (22%), urinary tract infection (21%), and uremia (14%). Radiologic findings included nephrocalcinosis (91%), urolithiasis (44%), or both (22%). The diagnosis was based on family history, tissue biopsy, and urine oxalate levels in most patients from group 1, and on urine oxalate and glycolate levels, alanine:glyoxalate aminotransferase activity, and DNA analysis in patients from group 2. Therapeutic withdrawal was the final option for 40% of the children; financial reasons were given for 10 of 17 patients from group 1 and none of 9 patients from group 2. End-stage renal disease started at 3.2 +/- 6.4 years of age and was present in half of the patients at the time of diagnosis. Fifty-two percent of the patients died: 82% in group 1 versus 33% in group 2; 33% of patients who underwent transplantation died versus 71% of those who did not. <a href="#6" class="mim-tip-reference" title="Cochat, P., Koch Nogueira, P. C., Mahmoud, M. A., Jamieson, N. V., Scheinman, J. I., Rolland, M.-O. <strong>Primary hyperoxaluria in infants: medical, ethical, and economic issues.</strong> J. Pediat. 135: 746-750, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10586179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10586179</a>] [<a href="https://doi.org/10.1016/s0022-3476(99)70095-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10586179">Cochat et al. (1999)</a> pointed out that the management of this disorder is a major example of the ethical, epidemiologic, technical, and financial challenges that are raised by autosomal recessive diseases with early life-threatening onset. In certain circumstances, oxalosis can be regarded as a condition for which therapeutic withdrawal may be an acceptable option. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10586179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with primary hyperoxaluria type I, <a href="#33" class="mim-tip-reference" title="Nishiyama, K., Funai, T., Katafuchi, R., Hattori, F., Onoyama, K., Ichiyama, A. <strong>Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene.</strong> Biochem. Biophys. Res. Commun. 176: 1093-1099, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2039493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2039493</a>] [<a href="https://doi.org/10.1016/0006-291x(91)90396-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2039493">Nishiyama et al. (1991)</a> identified a mutation in the AGXT gene (S205P; <a href="/entry/604285#0001">604285.0001</a>). SPT activity was approximately 1% of that in control liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2039493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Purdue, P. E., Takada, Y., Danpure, C. J. <strong>Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.</strong> J. Cell Biol. 111: 2341-2351, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1703535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1703535</a>] [<a href="https://doi.org/10.1083/jcb.111.6.2341" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1703535">Purdue et al. (1990)</a> found that approximately one-third of patients with type I primary hyperoxaluria have an allele carrying 2 point mutations: P11L (<a href="/entry/604285#0002">604285.0002</a>) and G170R (<a href="/entry/604285#0013">604285.0013</a>). <a href="#37" class="mim-tip-reference" title="Purdue, P. E., Allsop, J., Isaya, G., Rosenberg, L. E., Danpure, C. J. <strong>Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation.</strong> Proc. Nat. Acad. Sci. 88: 10900-10904, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1961759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1961759</a>] [<a href="https://doi.org/10.1073/pnas.88.23.10900" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1961759">Purdue et al. (1991)</a> showed that the substitution of P11L variant is necessary and sufficient for the generation of a mitochondrial targeting sequence (MTS) in the AGT protein such that it is incorrectly targeted to the mitochondria instead of to the peroxisome. Although the P11L mutation creates an MTS, the G170R mutation appeared to be necessary for redirection of AGT to the mitochondria, presumably by interfering with the mechanism of targeting to peroxisomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1961759+1703535" 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 15 unrelated Italian patients with primary hyperoxaluria type I, <a href="#36" class="mim-tip-reference" title="Pirulli, D., Puzzer, D., Ferri, L., Crovella, S., Amoroso, A., Ferrettini, C., Marangella, M., Mazzola, G., Florian, F. <strong>Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine:glyoxylate aminotransferase gene.</strong> Hum. Genet. 104: 523-525, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10453743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10453743</a>] [<a href="https://doi.org/10.1007/s004390050998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10453743">Pirulli et al. (1999)</a> identified the mutant AGXT alleles in each individual and found 8 new mutations. The screening strategy made use of the SSCP technique, followed by sequencing of bands with abnormal mobility derived from the AGXT exons. The most frequent mutation was G630A (<a href="/entry/604285#0013">604285.0013</a>), accounting for 30% of alleles, followed by G588A (<a href="/entry/604285#0012">604285.0012</a>), with a 13% frequency. Ten of the 15 patients were homozygotes; in only 1 case were the parents identified as first cousins. <a href="#36" class="mim-tip-reference" title="Pirulli, D., Puzzer, D., Ferri, L., Crovella, S., Amoroso, A., Ferrettini, C., Marangella, M., Mazzola, G., Florian, F. <strong>Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine:glyoxylate aminotransferase gene.</strong> Hum. Genet. 104: 523-525, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10453743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10453743</a>] [<a href="https://doi.org/10.1007/s004390050998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10453743">Pirulli et al. (1999)</a> stated that a total of 7 polymorphisms and 17 mutations had been identified in the AGXT gene, including the 8 new mutations they found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10453743" 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 mutation update of the AGXT gene, <a href="#46" class="mim-tip-reference" title="Williams, E. L., Acquaviva, C., Amoroso, A., Chevalier, F., Coulter-Mackie, M., Monico, C. G., Giachino, D., Owen, T., Robbiano, A., Salido, E., Waterham, H., Rumsby, G. <strong>Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.</strong> Hum. Mutat. 30: 910-917, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19479957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19479957</a>] [<a href="https://doi.org/10.1002/humu.21021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19479957">Williams et al. (2009)</a> stated that 146 mutations had been identified to date, with all exons of the AGXT gene represented. The authors identified 50 novel mutations in patients with HP1. There were no apparent genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19479957" 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="Fargue, S., Lewin, J., Rumsby, G., Danpure, C. J. <strong>Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.</strong> J. Biol. Chem. 288: 2475-2484, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23229545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23229545</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23229545[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M112.432617" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23229545">Fargue et al. (2013)</a> showed that 3 disease-causing missense mutations, I244T (<a href="/entry/604285#0007">604285.0007</a>), F152I (<a href="/entry/604285#0006">604285.0006</a>), and G41R (<a href="/entry/604285#0005">604285.0005</a>), which occur on the background of the minor allele characterized by the P11L polymorphism, can, like G170R, unmask the cryptic P11L-generated mitochondrial targeting sequence and result in AGT protein being mistargeted to mitochondria. These 4 missense mutations together constitute 40% of HP1 alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23229545" 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="#Dent1970" class="mim-tip-reference" title="Dent, C. E., Stamp, T. C. B. <strong>Treatment of primary hyperoxaluria.</strong> Arch. Dis. Child. 45: 735-745, 1970.">Dent and Stamp (1970)</a>; <a href="#Frederick1963" class="mim-tip-reference" title="Frederick, E. W., Rabkin, M. T., Richie, R. H., Jr., Smith, L. H., Jr. <strong>Studies on primary hyperoxaluria. I. In vivo demonstration of a defect in glyoxylate metabolism.</strong> New Eng. J. Med. 269: 821-829, 1963.">Frederick et al. (1963)</a>; <a href="#Hockaday1965" class="mim-tip-reference" title="Hockaday, T. D. R., Clayton, J. E., Smith, L. H., Jr. <strong>The metabolic error in primary hyperoxaluria.</strong> Arch. Dis. Child. 40: 485-491, 1965.">Hockaday et al.
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(1965)</a>; <a href="#Koch1967" class="mim-tip-reference" title="Koch, J., Stokstad, E. L., Williams, H. E., Smith, L. H., Jr. <strong>Deficiency of 2-oxo-glutarate:glyoxylate carboligase activity in primary hyperoxaluria.</strong> Proc. Nat. Acad. Sci. 57: 1123-1129, 1967.">Koch et al. (1967)</a>; <a href="#Liban1963" class="mim-tip-reference" title="Liban, E. <strong>Oxalosis in a Tripolitanian kinship. In: Goldschmidt, E.: Genetics of Migrant and Isolate Populations.</strong> Baltimore: Williams and Wilkins (pub.) 1963. P. 303.">Liban (1963)</a>; <a href="#O'Regan1979" class="mim-tip-reference" title="O'Regan, P. F. B., Constable, A. R., Harrison, A. R., Joekes, A. M., Kasidas, G. P., Rose, G. A. <strong>The management of the primary hyperoxaluric patient. In: Rose, G. A.; Robertson, W. G.; Watts, R. W. E.: Oxalate in human biochemistry and clinical pathology.</strong> London: Wellcome Foundation (pub.) 1979. Pp. 209-223.">O'Regan et al. (1979)</a>; <a href="#Williams1978" class="mim-tip-reference" title="Williams, H. E., Smith, L. H., Jr. <strong>Primary hyperoxaluria. In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S. (eds.): The Metabolic Basis of Inherited Disease. (4th ed.)</strong> New York: McGraw-Hill (pub.) 1978. Pp. 182-204.">Williams and Smith (1978)</a>
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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[<a href="https://doi.org/10.1016/0002-9343(73)90126-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.7326/0003-4819-76-2-279" target="_blank">Full Text</a>]
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<a id="Chesney1983" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6829606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6829606</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6829606" 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.1320140123" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(99)70095-8" target="_blank">Full Text</a>]
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<a id="Coltart1971" class="mim-anchor"></a>
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Coltart, D. J., Hudson, R. E. B.
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[<a href="https://doi.org/10.1136/hrt.33.2.315" target="_blank">Full Text</a>]
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Danpure, C. J., Cooper, P. J., Wise, P. J., Jennings, P. R.
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<strong>An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria.</strong>
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J. Cell Biol. 108: 1345-1352, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2925788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2925788</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2925788" 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/10.1083/jcb.108.4.1345" target="_blank">Full Text</a>]
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<strong>Prenatal exclusion of primary hyperoxaluria type 1. (Letter)</strong>
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[<a href="https://doi.org/10.1016/s0140-6736(88)91171-3" target="_blank">Full Text</a>]
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<strong>Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine:glyoxylate aminotransferase activity.</strong>
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[<a href="https://doi.org/10.1016/s0140-6736(87)92023-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0014-5793(86)80563-4" target="_blank">Full Text</a>]
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<strong>Further studies on the activity and subcellular distribution of alanine:glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1.</strong>
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[<a href="https://doi.org/10.1042/cs0750315" target="_blank">Full Text</a>]
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<strong>Mitochondrial damage and the subcellular distribution of 2-oxoglutarate:glyoxylate carboligase in normal human and rat liver and in the liver of a patient with primary hyperoxaluria type I.</strong>
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[<a href="https://doi.org/10.1042/cs0700417" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1097-0223(199607)16:7<587::AID-PD925>3.0.CO;2-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0300-9084(93)90091-6" target="_blank">Full Text</a>]
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<a id="Dennis1980" class="mim-anchor"></a>
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Dennis, A. J., Jr., Hudson, J. B., Humphries, A. L., Dasgupta, G., Wray, C. H.
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[<a href="https://doi.org/10.7326/0003-4819-92-6-799" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/adc.45.244.735" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1074/jbc.M112.432617" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM196310172691601" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJMoa2021712" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM199806253382615" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/adc.40.213.485" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.57.4.1123" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01957682" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1161/01.cir.64.4.845" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM198910193211607" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1177/014107688007300801" target="_blank">Full Text</a>]
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Pirulli, D., Puzzer, D., Ferri, L., Crovella, S., Amoroso, A., Ferrettini, C., Marangella, M., Mazzola, G., Florian, F.
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<strong>Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine:glyoxylate aminotransferase gene.</strong>
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[<a href="https://doi.org/10.1007/s004390050998" target="_blank">Full Text</a>]
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Purdue, P. E., Allsop, J., Isaya, G., Rosenberg, L. E., Danpure, C. J.
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<strong>Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation.</strong>
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[<a href="https://doi.org/10.1073/pnas.88.23.10900" target="_blank">Full Text</a>]
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Purdue, P. E., Takada, Y., Danpure, C. J.
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<strong>Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.</strong>
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[<a href="https://doi.org/10.1083/jcb.111.6.2341" target="_blank">Full Text</a>]
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Small, K. W., Letson, R., Scheinman, J.
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<strong>Ocular findings in primary hyperoxaluria.</strong>
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Arch. Ophthal. 108: 89-93, 1990.
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[<a href="https://doi.org/10.1001/archopht.1990.01070030095036" target="_blank">Full Text</a>]
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Takada, Y., Kaneko, N., Esumi, H., Purdue, P. E., Danpure, C. J.
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<strong>Human peroxisomal L-alanine:glyoxylate aminotransferase: evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2363689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2363689</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2363689" 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/10.1042/bj2680517" target="_blank">Full Text</a>]
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Theodossiadis, P. G., Friberg, T. R., Panagiotidis, D. N., Gogas, P. S., Pantelia, E. M., Moschos, M. N.
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<strong>Choroidal neovascularization in primary hyperoxaluria.</strong>
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Am. J. Ophthal. 134: 134-137, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12095827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12095827</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12095827" 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/s0002-9394(02)01458-7" target="_blank">Full Text</a>]
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Walden, U., Boswald, M., Dorr, H. G., Ruder, H.
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<strong>Primary hyperoxaluria 1: catch up growth and normalization of oxaluria 6 years after hepatorenal transplantation in a prepubertal boy.</strong>
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Europ. J. Pediat. 158: 727-729, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10485304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10485304</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10485304" 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/s004310051188" target="_blank">Full Text</a>]
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Watts, R. W. E., Calne, R. Y., Rolles, K., Danpure, C. J., Morgan, S. H., Mansell, M. A., Williams, R., Purkiss, P.
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<strong>Successful treatment of primary hyperoxaluria type I by combined hepatic and renal transplantation.</strong>
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Lancet 330: 474-475, 1987. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2887776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2887776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2887776" 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(87)91791-0" target="_blank">Full Text</a>]
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Watts, R. W. E., Calne, R. Y., Williams, R., Mansell, M. A., Veall, N., Purkiss, P., Rolles, K.
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<strong>Primary hyperoxaluria (type I): attempted treatment by combined hepatic and renal transplantation.</strong>
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Quart. J. Med. 57: 697-703, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3909198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3909198</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3909198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Will, E. J., Bijvoet, O. L. M.
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<strong>Primary oxalosis: clinical and biochemical response to high-dose pyridoxine therapy.</strong>
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Metabolism 28: 542-548, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/449695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">449695</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=449695" 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/10.1016/0026-0495(79)90195-1" target="_blank">Full Text</a>]
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Williams, E. L., Acquaviva, C., Amoroso, A., Chevalier, F., Coulter-Mackie, M., Monico, C. G., Giachino, D., Owen, T., Robbiano, A., Salido, E., Waterham, H., Rumsby, G.
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<strong>Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.</strong>
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Hum. Mutat. 30: 910-917, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19479957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19479957</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19479957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.21021" target="_blank">Full Text</a>]
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Williams, H. E., Smith, L. H., Jr.
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<strong>L-glyceric aciduria: new genetic variant of primary hyperoxaluria.</strong>
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New Eng. J. Med. 278: 233-239, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5635456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5635456</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5635456" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Primary hyperoxaluria. In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S. (eds.): The Metabolic Basis of Inherited Disease. (4th ed.)</strong>
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New York: McGraw-Hill (pub.) 1978. Pp. 182-204.
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Yendt, E. R., Cohanim, M.
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<strong>Response to a physiologic dose of pyridoxine in type I primary hyperoxaluria.</strong>
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New Eng. J. Med. 312: 953-957, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3974685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3974685</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3974685" 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/NEJM198504113121504" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 08/09/2022
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Marla J. F. O'Neill - updated : 10/26/2010<br>Cassandra L. Kniffin - updated : 9/4/2009<br>Jane Kelly - updated : 11/5/2002<br>Victor A. McKusick - updated : 3/23/2000<br>Victor A. McKusick - updated : 10/25/1999<br>Armand Bottani - updated : 10/11/1999<br>Victor A. McKusick - updated : 9/1/1999<br>Victor A. McKusick - updated : 8/31/1999<br>Victor A. McKusick - updated : 8/17/1999<br>Victor A. McKusick - updated : 7/1/1998<br>Victor A. McKusick - updated : 9/3/1997
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Victor A. McKusick : 6/4/1986
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carol : 08/09/2022<br>carol : 06/04/2022<br>alopez : 09/16/2016<br>carol : 07/09/2016<br>carol : 6/21/2016<br>alopez : 2/5/2013<br>wwang : 10/28/2010<br>terry : 10/26/2010<br>carol : 7/1/2010<br>carol : 5/20/2010<br>terry : 5/11/2010<br>wwang : 9/22/2009<br>ckniffin : 9/4/2009<br>terry : 6/3/2009<br>terry : 3/13/2009<br>terry : 4/20/2005<br>cwells : 11/5/2002<br>carol : 4/16/2000<br>mcapotos : 4/14/2000<br>mcapotos : 4/13/2000<br>terry : 3/23/2000<br>mgross : 11/15/1999<br>mgross : 11/8/1999<br>mgross : 11/5/1999<br>terry : 10/25/1999<br>carol : 10/11/1999<br>jlewis : 9/1/1999<br>jlewis : 8/31/1999<br>terry : 8/17/1999<br>kayiaros : 7/12/1999<br>carol : 7/13/1998<br>dholmes : 7/13/1998<br>terry : 7/1/1998<br>joanna : 10/30/1997<br>terry : 9/8/1997<br>mark : 9/8/1997<br>terry : 9/3/1997<br>jamie : 12/19/1996<br>terry : 12/13/1996<br>terry : 12/19/1994<br>davew : 8/19/1994<br>warfield : 4/20/1994<br>mimadm : 4/8/1994<br>carol : 8/30/1993<br>carol : 5/28/1993
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<strong>#</strong> 259900
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HYPEROXALURIA, PRIMARY, TYPE I; HP1
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<em>Alternative titles; symbols</em>
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OXALOSIS I<br />
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GLYCOLIC ACIDURIA<br />
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ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY<br />
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PEROXISOMAL ALANINE:GLYOXYLATE AMINOTRANSFERASE DEFICIENCY<br />
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HEPATIC AGT DEFICIENCY<br />
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SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY
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<strong>SNOMEDCT:</strong> 65520001;
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<strong>ORPHA:</strong> 416, 93598;
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<strong>DO:</strong> 0111670;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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2q37.3
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Hyperoxaluria, primary, type 1
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259900
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Autosomal recessive
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<span class="mim-font">
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3
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AGXT
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<span class="mim-font">
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604285
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that type I primary hyperoxaluria (HP1) is caused by homozygous or compound heterozygous mutation in the gene encoding alanine-glyoxylate aminotransferase (AGXT; 604285) on chromosome 2q37.</p>
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<strong>Description</strong>
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<p>Primary hyperoxaluria type I is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in various bodily tissues, especially the kidney, resulting in renal failure. Affected individuals have decreased or absent AGXT activity and a failure to transaminate glyoxylate, which causes the accumulated glyoxylate to be oxidized to oxalate. This overproduction of oxalate results in the accumulation of nonsoluble calcium oxalate in various body tissues, with pathologic sequelae (Takada et al., 1990; Danpure et al., 1989; Williams et al., 2009) </p><p><strong><em>Genetic Heterogeneity of Primary Hyperoxaluria</em></strong></p><p>
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Type II primary hyperoxaluria (HP2; 260000) is caused by mutation in the glyoxylate reductase/hydroxypyruvate reductase gene (GRHPR; 604296) on chromosome 9. Type III primary hyperoxaluria (HP3; 613616) is caused by mutation in the mitochondrial dihydrodipicolinate synthase-like gene (DHDPSL; 613597) on chromosome 10q24.</p>
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<strong>Clinical Features</strong>
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<p>Williams and Smith (1968) were able to distinguish 2 distinct genetic disorders among cases of primary hyperoxaluria. The largest proportion of patients had glycolic aciduria and hyperoxaluria, marked reduction in metabolism of C14-labeled glyoxylate or glycolate to carbon dioxide, increased conversion of glyoxylate to urinary glycolate, and a defect of the enzyme-soluble 2-oxo-glutarate:glyoxylate carboligase. However, later work (Danpure et al., 1986; Danpure and Jennings, 1988) indicated that 2-oxo-glutarate:glyoxylate carboligase is probably the same gene product as the mitochondrial matrix enzyme 2-oxoglutarate dehydrogenase (OGDH; see 203750); that the so-called soluble carboligase was probably an artifact caused by mitochondrial damage; and that in any case the latter is not deficient in this disorder. Williams and Smith (1968) found that another group of patients with primary hyperoxaluria excreted normal amounts of glycolic acid but large amounts of l-glyceric acid, more consistent with HP2. </p><p>Lindenmayer (1970) reported on 4 cases of oxalosis in 3 sibships. He traced 5 of the 6 parents to a common ancestral couple born in the 1700s. A useful review of published cases was provided. </p><p>Coltart and Hudson (1971) reported a girl with oxalosis in whom deposition of oxalate in the cardiac conduction system caused fatal heart block. </p><p>Boquist et al. (1973) reported a 46-year-old man with primary oxalosis who had onset of symptoms as an adult characterized by elevated levels of serum and urinary oxalic acid, as well as increased urinary excretion of glycolic and glyoxylic acid. He developed uremia and was treated with dialysis, but the disease progressed, with the appearance of polyneuropathy and peripheral ischemic changes leading to atrophy and gangrene. He died in uremia after 14 months of hemodialysis. Boquist et al. (1973) suggested that hemodialysis should not be utilized in patients with primary oxalosis. There was a family history of the disorder. Postmortem examination showed calcium oxalate deposits in the kidneys, including the glomeruli, interstitium, and tubular epithelial cells and lumens, myocardium, spongy bone, prostate, testes, striated muscles, aorta, inferior vena caval vein, and in numerous arteries and arterioles. The oxalate crystals were believed to be primarily formed intracellularly in the various organs. Additional findings were chronic pyelonephritis, degeneration of peripheral nerve fibers and perineural fibrosis. There was a family history of the disorder. The authors noted the unusually long survival of this patient. </p><p>Dennis et al. (1980) found that another complication of the disorder is peripheral vascular insufficiency resulting from spasm or arterial occlusion. Raynaud phenomenon, livedo reticularis, acrocyanosis, spasms of large arteries, gangrene and intermittent claudication have also been reported (Dennis et al., 1980); these are late complications in patients with uremia. </p><p>Morris et al. (1982) reported 3 infants with nephrocalcinosis and terminal renal failure due to oxalosis. All 3 had widespread oxalate deposition. Although biochemical evidence of primary hyperoxaluria was sought, the presence of severe renal failure and the lack of established normal values for urinary and plasma oxalate and glycollate in infants made the diagnosis difficult to establish. At least 1 patient appeared to have type I, since plasma glycolate was elevated. Morris et al. (1982) commented that it was unusual for primary oxalosis to display so early an onset and so rapid a course. </p><p>Chesney et al. (1983) reported a girl with HP1 who presented with renal failure at age 5 years and underwent bilateral renal transplants. A large radiopaque stone developed in 1 ureter after surgery. She had frequent pathologic fractures through large radiolucent areas that initially were interpreted as osteitis fibrosa cystica, but were found histologically to be areas of massive calcium oxalate deposition with localized histiocytic destruction of bone. The patient also had extensive soft-tissue calcification limiting motion in several joints. Material extruded from some of these deposits represented oxalates. Calcium oxalate crystals were extruded from under the patient's nails. </p><p>Danpure et al. (1989) reported 2 unrelated patients with HP1. One was a 16-year-old boy with a history of calcium oxalate kidney stones, hyperoxaluria, and hyperglycolic aciduria who had reached end-stage renal failure and was on dialysis. Residual AGXT activity was 8.7%. The second patient was a 33-year-old man with a milder form of the disorder, a history of calcium oxalate kidney stones, and a favorable response to pyridoxine treatment. Residual AGXT activity was 27.1%. </p><p>Small et al. (1990) examined 24 patients with primary hyperoxaluria and found that 8 had a crystalline retinopathy; 3 of the 8 also had optic neuropathy. </p><p>Theodossiadis et al. (2002) reported a 22-year-old man with type I primary hyperoxaluria who developed slowly progressive visual loss due to crystalline retinopathy. He then developed rapid, severe visual loss in both eyes. Fluorescein angiography confirmed the presence of choroidal neovascularization in both eyes at the edges of his previous macular scars. The authors concluded that mechanical factors from oxalate deposition may promote choroidal neovascularization. </p>
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<strong>Biochemical Features</strong>
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<p>Danpure and Jennings (1986) demonstrated that total alanine:glyoxylate aminotransferase levels were reduced in 2 patients with primary hyperoxaluria type I. In 1 patient, reduction in enzyme activity was found to be due to complete absence of the peroxisomal form of the enzyme. </p><p>Danpure et al. (1987) found that AGT activity, assayed in unfractionated liver tissue, ranged from 11 to 47% of the mean control value and appeared to be related to the clinical severity of the disorder and to several biochemical variables that indicate the degree of pathophysiologic derangement. </p><p>Danpure (1988) indicated that deficiency of AGT had been demonstrated in 27 patients with this disorder. The finding is compatible with earlier work showing that a few patients respond to pyridoxine; pyridoxal phosphate is a cofactor for AGT. Both soluble and mitochondrial alpha-ketoglutarate glyoxylate carboligase activity of muscle were normal in a patient with l-glycolic hyperoxaluria reported by Bourke et al. (1972). The patient may have suffered from a different disorder, or the enzyme of muscle may be an isozyme of that in liver, spleen and kidney which was deficient in this patient. </p><p>In liver tissue isolated from a patient with a severe form of HP1 with 8.7% residual AGXT activity, Danpure et al. (1989) showed that the AGXT activity was entirely within mitochondria, rather than in peroxisomes. In contrast, control liver AGXT was localized entirely within peroxisomes. The findings indicated that the defect resulted from intracellular rerouting of the AGXT enzyme. </p><p>Danpure (1993) published a review of primary hyperoxaluria type 1, including a discussion of mitochondrial targeting sequences and peroxisomal targeting sequences. </p>
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<strong>Diagnosis</strong>
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<p>Yendt and Cohanim (1985) noted that the diagnosis in some screened patients may be obscured if the subject is ingesting a pyridoxine-rich diet or multivitamin tablets containing even small amounts of pyridoxine. </p><p>Danpure et al. (1987) suggested that this disorder can be diagnosed by percutaneous hepatic needle biopsy in assay of AGT, the activity of which may be useful in determining the prognosis and likely severity of the disease. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Danpure et al. (1988) showed that prenatal diagnosis can be made by study of fetal liver tissue obtained by ultrasound-guided needle aspiration. They were able to exclude the diagnosis by the finding of normal AGT activity and normal immunoreactive AGT protein in the liver of a fetus at risk. </p><p>Danpure and Rumsby (1996) reviewed the strategies that had been adopted over the previous 13 years for the prenatal diagnosis of this disorder. These included (1) glyoxylate metabolite analysis of amniotic fluid in the second trimester; (2) AGT enzyme assay, immunoassay, and immunoelectron microscopy of fetal liver biopsies, also in the second trimester; and (3) linkage and mutation analysis of DNA isolated from chorionic villus samples in the first trimester. The methods have evolved in parallel with increasing understanding of the molecular etiology and pathogenesis of the disease. Danpure and Rumsby (1996) stated that, although the usefulness of metabolite analysis remained unproven, all the other methods had been successfully applied to the prenatal diagnosis of this disorder. </p>
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<strong>Clinical Management</strong>
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<p><strong><em>Oral Medications</em></strong></p><p>
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Will and Bijvoet (1979) observed favorable clinical and biochemical response to oral B6 treatment in primary hyperoxaluria. Pyridoxine (B6) is a cofactor in the alanine-glyoxylate transaminase enzyme pathway. </p><p>In 2 patients with type I primary hyperoxaluria, Yendt and Cohanim (1985) found that pyridoxine in a physiologic dose of 2 mg per day caused a marked fall in urinary oxalate and glycolate excretion and that excretion became completely normal when the dose was increased to 25 mg per day. In 2 other patients, who also differed by having normal urinary glycolate excretion, higher doses of pyridoxine were required: in 1, 200 mg per day produced moderate reduction in oxalate excretion and in the other, 25 mg per day had that effect. </p><p>Pyridoxine in high dosage is beneficial (O'Regan and Joekes, 1980), but since sensory neuropathy from high doses of pyridoxine has been observed (Berger and Schaumburg, 1984), use of low dosage is desirable. Orthophosphate prevents the progress of calcium oxalate stones. Small doses of a thiazide diuretic may be useful. </p><p>Milliner et al. (1994) reported experience with the treatment of primary hyperoxaluria with orthophosphate and pyridoxine in 25 patients treated for an average of 10 years (range, 0.3 to 26). They concluded that double therapy decreases urinary calcium oxalate crystallization and helps preserve renal function. Pyridoxine may be helpful even when renal failure has set in. If renal transplantation is necessary, these measures may help avoid damage to the transplanted kidney. </p><p><strong><em>RNAi Therapeutics</em></strong></p><p>
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Garrelfs et al. (2021) reported the results of a double-blind phase 3 clinical trial of the use of subcutaneous lumasiran, an RNA interference (RNAi) therapeutic agent, versus placebo in patients with HP1 who were 6 years of age or older. Among the 26 patients randomly assigned to the lumasiran group, the percentage reduction in 24-hour urinary oxalate excretion was 53.5 percentage points greater than among the 13 patients who received placebo (p less than 0.001), with effects observed as early as month 1. Most patients who received lumasiran had normal or near-normal urinary oxalate levels at month 6. Treatment also substantially reduced plasma oxalate levels. The principal adverse events were mild, transient injection-site reactions, seen in 38% of patients. No serious adverse events or deaths were associated with lumasiran treatment. </p><p><strong><em>Renal and Hepatic Transplantation</em></strong></p><p>
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Klauwers et al. (1969) had demonstrated that renal transplantation in primary oxalosis is unsuccessful because the donor kidney becomes involved, causing functional failure. </p><p>Watts et al. (1985) reported failure of renal transplant because of oxalate deposits. Thereafter, combined liver and renal transplantation was done. The postoperative observations were compatible with correction of the metabolic lesion by the grafted liver; the patient died of complications of immunosuppressive therapy. Watts et al. (1987) reported the successful treatment of a 23-year-old patient with combined hepatic and renal transplantation. The metabolic lesion was corrected by replacement of the deficient hepatic enzyme activity. Two previous renal transplants had failed, including 1 from a live, related donor. </p><p>McDonald et al. (1989) described a 38-year-old man in whom kidney transplantation and later liver transplantation were performed with correction of the metabolic defect and resorption of deposits of oxalate in the renal allograft. This patient was described also by Baethge et al. (1988) as an instance of livedo reticularis and peripheral gangrene due to oxalate sludge. The patient also had third-degree heart block, a recognized complication of oxalosis (Massie et al., 1981), which resolved after transplantation. </p><p>Latta and Brodehl (1990) reviewed the disorder on the basis of data from 330 published cases. They emphasized that whereas kidney transplantation is associated with a high rate of recurrence, liver transplantation offers the possibility of correcting the metabolic defect and preventing progression of crystal deposits. Attempts at prenatal diagnosis by analysis of organic acids in amniotic fluid have been unsuccessful. </p><p>Gruessner (1998) described a 22-month-old child with primary hyperoxaluria type I who received a liver transplant from her father. Eight months after transplantation and despite the use of nephrotoxic tacrolimus-based immunosuppressive therapy, her kidney function was stable, without the need for dialysis or kidney transplantation. The patient had presented at 5 weeks of age with dehydration, uremia, and nephrocalcinosis, as demonstrated by ultrasound. Kidney biopsy at the time of transplantation of the 320-gm liver from the father showed moderate to severe oxalosis. Eight months after transplantation, the urine oxalate concentration was normal. </p><p>Walden et al. (1999) reported a 6-year follow-up of a 10-year-old male patient who underwent hepatorenal transplantation at the age of 4 years. The boy showed significant catch-up growth, with height standard deviation score for chronologic age improving from -2.4 before transplantation to -0.3 after 6 years. Radiologic bone density improved at the same time. </p><p>Cochat et al. (1999) conducted a questionnaire survey of cases of primary hyperoxaluria type I in specialized centers worldwide. They identified 78 infants, of whom 44% were of Muslim origin and 56% were non-Muslim. The consanguinity rate was 76% and 0%, respectively. Thirty-three percent were treated in developing countries (group 1) and 67% in developed countries (group 2). Initial presentation (4.9 +/- 2.8 months) consisted of failure to thrive (22%), urinary tract infection (21%), and uremia (14%). Radiologic findings included nephrocalcinosis (91%), urolithiasis (44%), or both (22%). The diagnosis was based on family history, tissue biopsy, and urine oxalate levels in most patients from group 1, and on urine oxalate and glycolate levels, alanine:glyoxalate aminotransferase activity, and DNA analysis in patients from group 2. Therapeutic withdrawal was the final option for 40% of the children; financial reasons were given for 10 of 17 patients from group 1 and none of 9 patients from group 2. End-stage renal disease started at 3.2 +/- 6.4 years of age and was present in half of the patients at the time of diagnosis. Fifty-two percent of the patients died: 82% in group 1 versus 33% in group 2; 33% of patients who underwent transplantation died versus 71% of those who did not. Cochat et al. (1999) pointed out that the management of this disorder is a major example of the ethical, epidemiologic, technical, and financial challenges that are raised by autosomal recessive diseases with early life-threatening onset. In certain circumstances, oxalosis can be regarded as a condition for which therapeutic withdrawal may be an acceptable option. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In a patient with primary hyperoxaluria type I, Nishiyama et al. (1991) identified a mutation in the AGXT gene (S205P; 604285.0001). SPT activity was approximately 1% of that in control liver. </p><p>Purdue et al. (1990) found that approximately one-third of patients with type I primary hyperoxaluria have an allele carrying 2 point mutations: P11L (604285.0002) and G170R (604285.0013). Purdue et al. (1991) showed that the substitution of P11L variant is necessary and sufficient for the generation of a mitochondrial targeting sequence (MTS) in the AGT protein such that it is incorrectly targeted to the mitochondria instead of to the peroxisome. Although the P11L mutation creates an MTS, the G170R mutation appeared to be necessary for redirection of AGT to the mitochondria, presumably by interfering with the mechanism of targeting to peroxisomes. </p><p>In 15 unrelated Italian patients with primary hyperoxaluria type I, Pirulli et al. (1999) identified the mutant AGXT alleles in each individual and found 8 new mutations. The screening strategy made use of the SSCP technique, followed by sequencing of bands with abnormal mobility derived from the AGXT exons. The most frequent mutation was G630A (604285.0013), accounting for 30% of alleles, followed by G588A (604285.0012), with a 13% frequency. Ten of the 15 patients were homozygotes; in only 1 case were the parents identified as first cousins. Pirulli et al. (1999) stated that a total of 7 polymorphisms and 17 mutations had been identified in the AGXT gene, including the 8 new mutations they found. </p><p>In a mutation update of the AGXT gene, Williams et al. (2009) stated that 146 mutations had been identified to date, with all exons of the AGXT gene represented. The authors identified 50 novel mutations in patients with HP1. There were no apparent genotype/phenotype correlations. </p><p>Fargue et al. (2013) showed that 3 disease-causing missense mutations, I244T (604285.0007), F152I (604285.0006), and G41R (604285.0005), which occur on the background of the minor allele characterized by the P11L polymorphism, can, like G170R, unmask the cryptic P11L-generated mitochondrial targeting sequence and result in AGT protein being mistargeted to mitochondria. These 4 missense mutations together constitute 40% of HP1 alleles. </p>
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</span>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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Dent and Stamp (1970); Frederick et al. (1963); Hockaday et al.
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(1965); Koch et al. (1967); Liban (1963); O'Regan et al. (1979);
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Williams and Smith (1978)
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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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