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Entry
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- #222700 - LYSINURIC PROTEIN INTOLERANCE; LPI
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- OMIM
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<p>
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<span class="h4">#222700</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/222700"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#mapping">Mapping</a>
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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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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=LYSINURIC PROTEIN INTOLERANCE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3366&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1361/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/4383" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/lysinuric-protein-intolerance" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=222700[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=470" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div 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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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060439" 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/222700" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0060439" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a 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> 303852004<br />
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<strong>ORPHA:</strong> 470<br />
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<strong>DO:</strong> 0060439<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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222700
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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LYSINURIC PROTEIN INTOLERANCE; LPI
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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DIBASIC AMINO ACIDURIA II
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/14/65?start=-3&limit=10&highlight=65">
|
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14q11.2
|
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</a>
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Lysinuric protein intolerance
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/222700"> 222700 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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SLC7A7
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/603593"> 603593 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/222700" 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>
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/222700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/222700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</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>
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<div>
|
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<p />
|
|
</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Decreased stature <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673718&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673718</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br /> -
|
|
Centripetal obesity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248311001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248311001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551560&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551560</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001956" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001956</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001956" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001956</a>]</span><br /> -
|
|
Thin extremities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673719&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673719</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Interstitial changes on chest X-ray <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673728&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673728</a>]</span><br /> -
|
|
Respiratory insufficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409622000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409622000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409623005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409623005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J96.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J96.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1145670&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1145670</a>, <a href="https://bioportal.bioontology.org/search?q=C0035229&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035229</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002878</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002093</a>]</span><br /> -
|
|
Alveolar proteinosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/10501004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">10501004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J84.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J84.01</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/516.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">516.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5400698&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5400698</a>, <a href="https://bioportal.bioontology.org/search?q=C0034050&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034050</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006517" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006517</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006517" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006517</a>]</span><br /> -
|
|
Pulmonary hemorrhage <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78144005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78144005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/472857006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">472857006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P26" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P26</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R04.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R04.89</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/P26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/770.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">770.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151701&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151701</a>, <a href="https://bioportal.bioontology.org/search?q=C0475713&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0475713</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040223</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040223</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pancreas </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pancreatitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75694006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75694006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K85.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K85.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001733</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001733</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spleen </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nausea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422587007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422587007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027497&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027497</a>, <a href="https://bioportal.bioontology.org/search?q=C4255480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4255480</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002018" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002018</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002018" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002018</a>]</span><br /> -
|
|
Vomiting <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422400008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422400008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300359004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300359004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249497008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249497008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span><br /> -
|
|
Diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br /> -
|
|
Aversion to protein-rich food <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673720&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673720</a>]</span><br /> -
|
|
Impaired intestinal absorption of cationic amino acids <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673721&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673721</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Chronic renal disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90688005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90688005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46177005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46177005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/709044004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">709044004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/585" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/585.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.6</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/585.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1561643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1561643</a>, <a href="https://bioportal.bioontology.org/search?q=C0022661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022661</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012622</a>]</span><br /> -
|
|
Impaired renal absorption of cationic amino acids <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673717&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673717</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Osteoporosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64859006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64859006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Z82.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Z82.62</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M81.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M81.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V17.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V17.81</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2911643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2911643</a>, <a href="https://bioportal.bioontology.org/search?q=C0029456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span><br /> -
|
|
Delayed bone age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123983008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123983008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span><br /> -
|
|
Frequent fractures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806283&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806283</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002757" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002757</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002757" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002757</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Loose skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58588007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58588007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q82.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q82.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010495&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010495</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000973</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000973</a>]</span><br /> -
|
|
Hyperelastic skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241074&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241074</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000974" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000974</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000974" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000974</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Thin, sparse hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860844&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860844</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
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|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
|
|
Muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26544005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26544005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151786&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151786</a>, <a href="https://bioportal.bioontology.org/search?q=C0030552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030552</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span><br /> -
|
|
Muscle atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88092000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88092000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541794&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541794</a>, <a href="https://bioportal.bioontology.org/search?q=C0026846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026846</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</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> NEUROLOGIC </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> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coma may occur after force feeding of high protein diet <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673714&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673714</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/371632003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">371632003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405809000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405809000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R40.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R40.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.01</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001259</a>]</span><br /> -
|
|
Mental delay or retardation (uncommon) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673715&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673715</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Behavioral Psychiatric Manifestations </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Psychotic episodes have been rarely reported <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673716&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673716</a>]</span><br />
|
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|
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</span>
|
|
</div>
|
|
</div>
|
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|
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</div>
|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Postprandial hyperammonemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673734&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673734</a>]</span><br /> -
|
|
Hyperammonemic coma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673735</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
|
|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br /> -
|
|
Leukopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/419188005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">419188005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84828003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84828003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.819</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0750394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0750394</a>, <a href="https://bioportal.bioontology.org/search?q=C0023530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023530</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span><br /> -
|
|
Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
|
|
Bone marrow may show hemophagocytosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673727&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673727</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Urinary excretion of cationic amino acids (lysine, arginine, ornithine) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673723&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673723</a>]</span><br /> -
|
|
Decreased blood levels of cationic amino acids <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673724&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673724</a>]</span><br /> -
|
|
Hyperammonemia after protein intake <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673725&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673725</a>]</span><br /> -
|
|
Orotic aciduria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47641009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47641009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124277009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124277009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69525003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69525003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268130&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268130</a>, <a href="https://bioportal.bioontology.org/search?q=C0268128&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268128</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003218</a>]</span><br /> -
|
|
Increased serum lactate hydrogenase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673726</a>]</span><br /> -
|
|
Increased serum ferritin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241013&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241013</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003281" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003281</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
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|
|
</div>
|
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|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
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- Highly variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839039</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
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- Caused by mutation in the solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 gene (SLC7A7, <a href="/entry/603593#0001">603593.0001</a>)<br />
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<p>A number sign (#) is used with this entry because lysinuric protein intolerance (LPI) is caused by homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 (<a href="/entry/603593">603593</a>) on chromosome 14q11.</p>
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<p>Lysinuric protein intolerance is caused by defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in kidney and intestine. Metabolic derangement is characterized by increased renal excretion of CAA, reduced CAA absorption from intestine, and orotic aciduria (<a href="#1" class="mim-tip-reference" title="Borsani, G., Bassi, M. T., Sperandeo, M. P., De Grandi, A., Buoninconti, A., Riboni, M., Manzoni, M., Incerti, B., Pepe, A., Andria, G., Ballabio, A., Sebastio, G. <strong>SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.</strong> Nature Genet. 21: 297-301, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10080183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10080183</a>] [<a href="https://doi.org/10.1038/6815" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10080183">Borsani et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10080183" 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>See also dibasic amino aciduria I (<a href="/entry/222690">222690</a>).</p>
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<p><a href="#20" class="mim-tip-reference" title="Perheentupa, J., Visakorpi, J. K. <strong>Protein intolerance with deficient transport of basic amino acids: another inborn error of metabolism.</strong> Lancet 292: 813-816, 1965. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4158034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4158034</a>] [<a href="https://doi.org/10.1016/s0140-6736(65)92446-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4158034">Perheentupa and Visakorpi (1965)</a> first described 3 Finnish infants with an inborn error of metabolism characterized by protein intolerance and deficient transport of basic amino acids. Blood urea was low and urinary lysine and arginine were increased. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4158034" 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="Kekomaki, M., Visakorpi, J. K., Perheentupa, J., Saxen, L. <strong>Familial protein intolerance with deficient transport of basic amino acids: an analysis of 10 patients.</strong> Acta Paediat. Scand. 56: 617-630, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6076999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6076999</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1967.tb15988.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6076999">Kekomaki et al. (1967)</a> described 10 children, including several pairs of sibs, with vomiting, diarrhea, failure to thrive, hepatomegaly, diffuse cirrhosis, low blood urea, hyperammonemia, and leukopenia. Symptoms were aggravated by high protein intake and relieved by protein restriction. An excess of ornithine, arginine, and lysine, but not of cystine, was excreted in the urine. Intestinal absorption of arginine and lysine was normal. A low concentration of arginine relative to lysine in body fluids was thought responsible for the hyperammonemia and reduced urea synthesis. One of the families was consanguineous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6076999" 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="Kekomaki, M., Toivakka, E., Hakkinen, V., Salaspuro, M. <strong>Familial protein intolerance with deficient transport of basic amino acids. Report on an adult patient with chronic hyperammonemia</strong> Acta Med. Scand. 183: 357-359, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5666624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5666624</a>] [<a href="https://doi.org/10.1111/j.0954-6820.1968.tb10491.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5666624">Kekomaki et al. (1968)</a> reported a 23-year-old man with protein intolerance who refused to eat protein-rich food. Institution of cow's milk at age 1 year resulted in prolonged watery diarrhea and retardation of physical development. He grew physically with increased protein intake in his teens, but mental function deteriorated and he had episodic attacks of stupor and asterixis. The liver was enlarged and fatty. His 15-year-old affected sister also had protein intolerance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5666624" 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="Oyanagi, K., Miura, R., Yamanouchi, T. <strong>Congenital lysinuria: a new inherited transport disorder of dibasic amino acids.</strong> J. Pediat. 77: 259-266, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5431208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5431208</a>] [<a href="https://doi.org/10.1016/s0022-3476(70)80333-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5431208">Oyanagi et al. (1970)</a> described severe mental retardation, physical retardation, mild intestinal malabsorption syndrome, and increased urinary excretion of lysine, ornithine, and arginine in 2 Japanese sisters with second-cousin parents. Cystine excretion was always within normal limits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5431208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Malmquist, J., Jagenburg, R., Lindstedt, G. <strong>Familial protein intolerance: possible nature of enzyme defect.</strong> New Eng. J. Med. 284: 997-1002, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5553484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5553484</a>] [<a href="https://doi.org/10.1056/NEJM197105062841802" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5553484">Malmquist et al. (1971)</a> stated that 13 cases of familial protein intolerance had been observed in Finland. They described a Swedish patient of Finnish origin with intellectual impairment, radiographic evidence of brain atrophy, and marked skeletal fragility. Administration of alanine resulted in elevation of blood ammonia and glucose. Urea cycle function appeared to be normal and the defect was thought to concern the mechanisms by which amino nitrogen is transferred to the urea-synthesizing system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5553484" 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>During citrulline infusion, <a href="#21" class="mim-tip-reference" title="Rajantie, J., Simell, O., Perheentupa, J. <strong>Lysinuric protein intolerance: basolateral transport effect in renal tubuli.</strong> J. Clin. Invest. 67: 1078-1082, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7204568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7204568</a>] [<a href="https://doi.org/10.1172/jci110120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7204568">Rajantie et al. (1981)</a> found that LPI patients had increased plasma citrulline levels similar to controls, but excessive excretion compared to controls. Patients had subnormal increases in plasma arginine and ornithine with massive argininuria and moderate ornithinuria. The excretion rates of the third diamino acid lysine and other amino acids remained practically unaltered, thus excluding mutual competition as the cause for the increases. The results suggested that reabsorption in the normal kidney involves partial conversion of citrulline to arginine and ornithine, and that the diamino acid transport defect in LPI is located at the basolateral cell membrane of the renal tubules. This inhibits the efflux of arginine and ornithine, increasing their cellular concentration, which in turn inhibits the metabolic disposal of citrulline, and causes leakage of arginine, ornithine, and citrulline into the tubular lumen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7204568" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Carpenter, T. O., Levy, H. L., Holtrop, M. E., Shih, V. E., Anast, C. S. <strong>Lysinuric protein intolerance presenting as childhood osteoporosis: clinical and skeletal response to citrulline therapy.</strong> New Eng. J. Med. 312: 290-294, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3917550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3917550</a>] [<a href="https://doi.org/10.1056/NEJM198501313120506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3917550">Carpenter et al. (1985)</a> emphasized that childhood osteopenia and osteoporosis were nearly constant complications of lysinuric protein intolerance. Laboratory studies suggested defective transport of ornithine and arginine across the plasma membrane of liver cells and across the basolateral membrane of renotubular cells. The defect in transport of dibasic amino acids results in lack of sufficient ornithine to support activity of hepatic ornithine transcarbamylase (OTC; <a href="/entry/300461">300461</a>). Episodic hyperammonemia occurs, similar to that observed in OTC deficiency (<a href="/entry/311250">311250</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3917550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Shaw, P. J., Dale, G., Bates, D. <strong>Familial lysinuric protein intolerance presenting as coma in two adult siblings.</strong> J. Neurol. Neurosurg. Psychiat. 52: 648-651, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2732736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2732736</a>] [<a href="https://doi.org/10.1136/jnnp.52.5.648" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2732736">Shaw et al. (1989)</a> described a 36-year-old man and his 32-year-old brother who presented in adult life with hyperammonemic coma due to lysinuric protein intolerance. They were of normal intellect and had maintained good health, until presentation in their thirties, by unconscious dietary protein avoidance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2732736" 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="#18" class="mim-tip-reference" title="Parto, K., Kallajoki, M., Aho, H., Simell, O. <strong>Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of four pediatric patients.</strong> Hum. Path. 25: 400-407, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8163273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8163273</a>] [<a href="https://doi.org/10.1016/0046-8177(94)90150-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8163273">Parto et al. (1994)</a> described the clinical courses and autopsy findings of 4 pediatric LPI patients. All had developed acute respiratory insufficiency. In addition to pulmonary hemorrhages, 3 of them had pulmonary alveolar proteinosis and 1 had cholesterol granulomas. Three patients had clinically obvious renal insufficiency, but all 4 showed histologic signs of immune complex-mediated glomerulonephritis. The patients also developed hepatic insufficiency with fatty degeneration or cirrhosis. All patients showed anemia, thrombocytopenia, and a severe bleeding tendency. Bone marrow of 3 patients was hypercellular, but the number of megakaryocytes was decreased in 2 cases. Amyloid was present in the lymph nodes and spleen. Bone specimens showed osteoporosis. <a href="#18" class="mim-tip-reference" title="Parto, K., Kallajoki, M., Aho, H., Simell, O. <strong>Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of four pediatric patients.</strong> Hum. Path. 25: 400-407, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8163273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8163273</a>] [<a href="https://doi.org/10.1016/0046-8177(94)90150-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8163273">Parto et al. (1994)</a> concluded that in addition to being at risk of protein malnutrition in the active growth phase, probably due to higher requirements for total nitrogen and amino acids, pediatric patients with lysinuric protein intolerance are predisposed to develop pulmonary alveolar proteinosis and glomerulonephritis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8163273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="McManus, D. T., Moore, R., Hill, C. M., Rodgers, C., Carson, D. J., Love, A. H. G. <strong>Necropsy findings in lysinuric protein intolerance.</strong> J. Clin. Path. 49: 345-347, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8655715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8655715</a>] [<a href="https://doi.org/10.1136/jcp.49.4.345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8655715">McManus et al. (1996)</a> reported a 21-year-old woman who had presented at 8 months of age with persistent vomiting and failure to thrive. At that time there was a marked increase in urinary lysine excretion and ornithine and arginine to a lesser extent. The urinary orotic acid concentration was also raised and casein protein loading tests increased the concentrations of all plasma amino acids except lysine, ornithine, and arginine. A protein-restricted diet was recommended and supplements of lysine, arginine, and citrulline were prescribed. During the teenage years, compliance with the diet and amino acid supplements was poor, and she developed osteoporosis. She showed gradual deterioration with episodic disturbances of liver function and hyperammonemia 2 years before her death. Immediately before death she became comatose, had persistently raised serum ammonia concentrations, metabolic acidosis, and a coagulopathy. She died despite intensive therapy, including intravenous arginine for the hyperammonemia. Postmortem examination revealed hepatic micronodular cirrhosis with extensive fatty changes. The lungs showed pulmonary alveolar proteinosis. Immunofluorescence and electron microscopy revealed glomerulonephritis with predominant IgA deposition. <a href="#12" class="mim-tip-reference" title="McManus, D. T., Moore, R., Hill, C. M., Rodgers, C., Carson, D. J., Love, A. H. G. <strong>Necropsy findings in lysinuric protein intolerance.</strong> J. Clin. Path. 49: 345-347, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8655715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8655715</a>] [<a href="https://doi.org/10.1136/jcp.49.4.345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8655715">McManus et al. (1996)</a> suggested that the glomerulopathy may have been related to the failure of the normal role of the liver in clearance of immune complexes from the circulation. Pulmonary hemorrhage and alveolar proteinosis had also been previously described in Finnish cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8655715" 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 3-year-old boy of Norwegian descent with LPI and immune complex disease consistent with systemic lupus erythematosus (SLE; <a href="/entry/152700">152700</a>), <a href="#17" class="mim-tip-reference" title="Parsons, H., Snyder, F., Bowen, T., Klassen, J., Pinto, A. <strong>Immune complex disease consistent with systemic lupus erythematosus in a patient with lysinuric protein intolerance.</strong> J. Inherit. Metab. Dis. 19: 627-634, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8892019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8892019</a>] [<a href="https://doi.org/10.1007/BF01799838" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8892019">Parsons et al. (1996)</a> presented evidence suggesting that the immune complex disease may be the basis of the respiratory problems. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8892019" 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 4 patients with LPI, <a href="#3" class="mim-tip-reference" title="Duval, M., Fenneteau, O., Doireau, V., Faye, A., Emilie, D., Yotnda, P., Drapier, J.-C., Schlegel, N., Sterkers, G., Ogier de Baulny, H., Vilmer, E. <strong>Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance.</strong> J. Pediat. 134: 236-239, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931537</a>] [<a href="https://doi.org/10.1016/s0022-3476(99)70423-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9931537">Duval et al. (1999)</a> found features that fulfilled the diagnostic criteria for familial hemophagocytic lymphohistiocytosis (HPLH1; <a href="/entry/267700">267700</a>). Mature histiocytes and neutrophil precursors participated in hemophagocytosis in the bone marrow. Serum levels of ferritin and lactate dehydrogenase were elevated, hypercytokinemia was present, and soluble interleukin-2 receptor levels were increased up to 18.6-fold. <a href="#3" class="mim-tip-reference" title="Duval, M., Fenneteau, O., Doireau, V., Faye, A., Emilie, D., Yotnda, P., Drapier, J.-C., Schlegel, N., Sterkers, G., Ogier de Baulny, H., Vilmer, E. <strong>Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance.</strong> J. Pediat. 134: 236-239, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931537</a>] [<a href="https://doi.org/10.1016/s0022-3476(99)70423-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9931537">Duval et al. (1999)</a> suggested that the diagnosis of LPI should be considered in any patient presenting with hemophagocytic lymphohistiocytosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9931537" 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="#26" class="mim-tip-reference" title="Smith, D. W., Scriver, C. R., Simell, O. <strong>Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes.</strong> Hum. Genet. 80: 395-396, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3143662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3143662</a>] [<a href="https://doi.org/10.1007/BF00273660" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3143662">Smith et al. (1988)</a> found that, contrary to their findings in cultured skin fibroblasts, LPI red cells showed normal net uptake and efflux of cationic amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3143662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The studies of <a href="#7" class="mim-tip-reference" title="Kekomaki, M., Visakorpi, J. K., Perheentupa, J., Saxen, L. <strong>Familial protein intolerance with deficient transport of basic amino acids: an analysis of 10 patients.</strong> Acta Paediat. Scand. 56: 617-630, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6076999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6076999</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1967.tb15988.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6076999">Kekomaki et al. (1967)</a> and <a href="#15" class="mim-tip-reference" title="Norio, R., Perheentupa, J., Kekomaki, M., Visakorpi, J. K. <strong>Lysinuric protein intolerance, an autosomal recessive disease: a genetic study of 10 Finnish families.</strong> Clin. Genet. 2: 214-222, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5146580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5146580</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1971.tb00280.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5146580">Norio et al. (1971)</a>, who called the condition 'lysinuric protein intolerance,' confirmed autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5146580+6076999" 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="#27" class="mim-tip-reference" title="Sperandeo, M. P., Andria, G., Sebastio, G. <strong>Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.</strong> Hum. Mutat. 29: 14-21, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17764084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17764084</a>] [<a href="https://doi.org/10.1002/humu.20589" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17764084">Sperandeo et al. (2008)</a> noted that the diagnosis of LPI is often difficult because of vague clinical presentation. Classic symptoms of protein intolerance may remain unnoticed during the first and second decades of life due to unconscious avoidance of dietary protein. However, patients usually present with gastrointestinal symptoms soon after weaning. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17764084" 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="#28" class="mim-tip-reference" title="Sperandeo, M. P., Buoninconti, A., Passariello, A., Scala, I., Adami, A., Lauteala, T., Mykkanen, J., Andria, G., Sebastio, G. <strong>Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report.</strong> Prenatal Diag. 19: 771-773, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10451527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10451527</a>]" pmid="10451527">Sperandeo et al. (1999)</a> demonstrated the feasibility of prenatal diagnosis of LPI by linkage analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10451527" 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 4-year-old girl with LPI, <a href="#2" class="mim-tip-reference" title="Carpenter, T. O., Levy, H. L., Holtrop, M. E., Shih, V. E., Anast, C. S. <strong>Lysinuric protein intolerance presenting as childhood osteoporosis: clinical and skeletal response to citrulline therapy.</strong> New Eng. J. Med. 312: 290-294, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3917550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3917550</a>] [<a href="https://doi.org/10.1056/NEJM198501313120506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3917550">Carpenter et al. (1985)</a> found that oral citrulline therapy resulted in 'substantial increase in protein tolerance..., striking acceleration of linear growth, as well as increase in bone mass...' Whereas impairment of urea production in LPI results from a defect in the uptake of ornithine in liver cells, citrulline, which is metabolized to arginine and ornithine, is absorbed by a mechanism that is unaffected in LPI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3917550" 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>By genomewide linkage analysis of 20 Finnish LPI families, <a href="#10" class="mim-tip-reference" title="Lauteala, T., Sistonen, P., Savontaus, M.-L., Mykkanen, J., Simell, J., Lukkarinen, M., Simell, O., Aula, P. <strong>Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.</strong> Am. J. Hum. Genet. 60: 1479-1486, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9199570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9199570</a>] [<a href="https://doi.org/10.1086/515457" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9199570">Lauteala et al. (1997)</a> found linkage to chromosome 14q (maximum pairwise lod scores of 5.82 at marker D14S742 and 6.91 at D14S283). Haplotype analysis identified a 10-cM candidate interval between D14S72 and MYH7 (<a href="/entry/160760">160760</a>), which had previously been mapped to 14q12. There was strong evidence for a founder effect in Finland. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9199570" 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>By linkage analysis, <a href="#9" class="mim-tip-reference" title="Lauteala, T., Mykkanen, J., Sperandeo, M. P., Gasparini, P., Savontaus, M.-L., Simell, O., Andria, G., Sebastio, G., Aula, P. <strong>Genetic homogeneity of lysinuric protein intolerance.</strong> Europ. J. Hum. Genet. 6: 612-615, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887380</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9887380">Lauteala et al. (1998)</a> concluded that LPI in non-Finnish cases is due to mutation in the same gene on 14q. They studied 19 non-Finnish families, of which 13 were Italian, 1 Swedish, 1 Latvian, 2 Moroccan, 1 Saudi Arabian, and 1 Turkish. These families showed no linkage disequilibrium except in an Italian family cluster. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9887380" 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 31 Finnish patients with lysinuric protein intolerance, <a href="#29" class="mim-tip-reference" title="Torrents, D., Mykkanen, J., Pineda, M., Feliubadalo, L., Estevez, R., de Cid, R., Sanjurjo, P., Zorzano, A., Nunes, V., Huoponen, K., Reinikainen, A., Simell, O., Savontaus, M.-L., Aula, P., Palacin, M. <strong>Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intolerance gene.</strong> Nature Genet. 21: 293-296, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10080182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10080182</a>] [<a href="https://doi.org/10.1038/6809" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10080182">Torrents et al. (1999)</a> identified homozygosity for a founder mutation in the SLC7A7 gene (<a href="/entry/603593#0001">603593.0001</a>). <a href="#1" class="mim-tip-reference" title="Borsani, G., Bassi, M. T., Sperandeo, M. P., De Grandi, A., Buoninconti, A., Riboni, M., Manzoni, M., Incerti, B., Pepe, A., Andria, G., Ballabio, A., Sebastio, G. <strong>SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.</strong> Nature Genet. 21: 297-301, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10080183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10080183</a>] [<a href="https://doi.org/10.1038/6815" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10080183">Borsani et al. (1999)</a> defined the Finnish mutation as a splice acceptor change resulting in a frameshift and premature translation termination. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10080183+10080182" 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="#29" class="mim-tip-reference" title="Torrents, D., Mykkanen, J., Pineda, M., Feliubadalo, L., Estevez, R., de Cid, R., Sanjurjo, P., Zorzano, A., Nunes, V., Huoponen, K., Reinikainen, A., Simell, O., Savontaus, M.-L., Aula, P., Palacin, M. <strong>Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intolerance gene.</strong> Nature Genet. 21: 293-296, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10080182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10080182</a>] [<a href="https://doi.org/10.1038/6809" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10080182">Torrents et al. (1999)</a> identified compound heterozygosity for 2 SLC7A7 mutations (<a href="/entry/603593#0005">603593.0005</a>; <a href="/entry/603593#0006">603593.0006</a>) in a Spanish LPI patient. In affected members of 2 unrelated Italian LPI families, <a href="#1" class="mim-tip-reference" title="Borsani, G., Bassi, M. T., Sperandeo, M. P., De Grandi, A., Buoninconti, A., Riboni, M., Manzoni, M., Incerti, B., Pepe, A., Andria, G., Ballabio, A., Sebastio, G. <strong>SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.</strong> Nature Genet. 21: 297-301, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10080183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10080183</a>] [<a href="https://doi.org/10.1038/6815" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10080183">Borsani et al. (1999)</a> identified 2 different homozygous mutations in the SLC7A7 gene (<a href="/entry/603593#0002">603593.0002</a> and <a href="/entry/603593#0003">603593.0003</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10080183+10080182" 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="Noguchi, A., Shoji, Y., Koizumi, A., Takahashi, T., Shoji, Y., Matsumori, M., Kayo, T., Ohata, T., Wada, Y., Yoshimura, I., Maisawa, S., Konishi, M., Takasago, Y., Takada, G. <strong>SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.</strong> Hum. Mutat. 15: 367-372, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737982</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<367::AID-HUMU9>3.0.CO;2-C" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737982">Noguchi et al. (2000)</a> identified SLC7A7 mutations (<a href="/entry/603593#0008">603593.0008</a>; <a href="/entry/603593#0009">603593.0009</a>) in Japanese LPI patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10737982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Mykkanen, J., Torrents, D., Pineda, M., Camps, M., Yoldi, M. E., Horelli-Kuitunen, N., Huoponen, K., Heinonen, M., Oksanen, J., Simell, O., Savontaus, M.-L., Zorzano, A., Palacin, M., Aula, P. <strong>Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).</strong> Hum. Molec. Genet. 9: 431-438, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655553</a>] [<a href="https://doi.org/10.1093/hmg/9.3.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655553">Mykkanen et al. (2000)</a> performed mutation screening of 20 non-Finnish LPI patients and found 10 novel mutations in the SLC7A7 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Sperandeo, M. P., Andria, G., Sebastio, G. <strong>Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.</strong> Hum. Mutat. 29: 14-21, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17764084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17764084</a>] [<a href="https://doi.org/10.1002/humu.20589" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17764084">Sperandeo et al. (2008)</a> identified 9 novel mutations in the SLC7A7 gene, and noted that a total of 43 different mutations had been identified in over 100 patients with LPI. Mutations were spread throughout the gene with no apparent genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17764084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Font-Llitjos, M., Rodriguez-Santiago, B., Espino, M., Sillue, R., Manas, S., Gomez, L., Perez-Jurado, L. A., Palacin, M., Nunes, V. <strong>Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.</strong> Europ. J. Hum. Genet. 17: 71-79, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18716612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18716612</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18716612[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/10.1038/ejhg.2008.145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18716612">Font-Llitjos et al. (2009)</a> identified 11 mutations in the SLC7A7, including 7 novel mutations, in 11 patients from 9 unrelated families with LPI. Two of the mutations were large deletions involving exons 4 to 11 and exons 6 through 11 (<a href="/entry/603593#0011">603593.0011</a>), respectively. These deletions were identified using multiplex ligation probe amplification (MLPA) assays and were found to result from the recombination of Alu repeats at introns 3 and 5, respectively, and the same AluY sequence in the 3-prime region of the SLC7A7 gene. Patients with the large deletions had the most severe phenotypes, likely resulting from dramatic loss of transport function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18716612" 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="#Kato1982" class="mim-tip-reference" title="Kato, T., Mizutani, N., Ban, M. <strong>Renal transport of lysine and arginine in lysinuric protein intolerance.</strong> Europ. J. Pediat. 139: 181-184, 1982.">Kato et al. (1982)</a>; <a href="#Kihara1973" class="mim-tip-reference" title="Kihara, H., Valente, M., Porter, M. T., Fluharty, A. L. <strong>Hyperdibasicaminoaciduria in a mentally retarded homozygote with a peculiar response to phenothiazines.</strong> Pediatrics 51: 223-229, 1973.">Kihara et al. (1973)</a>; <a href="#Perheentupa1974" class="mim-tip-reference" title="Perheentupa, J., Simell, O. <strong>Lysinuric protein intolerance.</strong> Birth Defects Orig. Art. Ser. X(4): 201-207, 1974.">Perheentupa and Simell (1974)</a>; <a href="#Rajantie1980" class="mim-tip-reference" title="Rajantie, J., Simell, O., Rapola, J., Perheentupa, J. <strong>Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine.</strong> J. Pediat. 97: 927-932, 1980.">Rajantie et al. (1980)</a>; <a href="#Simell1975" class="mim-tip-reference" title="Simell, O., Perheentupa, J., Rapola, J., Visakorpi, J. K., Eskelin, L. <strong>Lysinuric protein intolerance.</strong> Am. J. Med. 59: 229-240, 1975.">Simell et al. (1975)</a>; <a href="#Simell1980" class="mim-tip-reference" title="Simell, O., Rajantie, J., Perheentupa, J. <strong>Lysinuric protein intolerance (LPI).In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K. : Population Structure and Genetic Disorders.</strong> New York: Academic Press 1980. Pp. 633-636.">Simell et al. (1980)</a>
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Borsani, G., Bassi, M. T., Sperandeo, M. P., De Grandi, A., Buoninconti, A., Riboni, M., Manzoni, M., Incerti, B., Pepe, A., Andria, G., Ballabio, A., Sebastio, G.
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<strong>SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.</strong>
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Nature Genet. 21: 297-301, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10080183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10080183</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10080183" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/6815" target="_blank">Full Text</a>]
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Carpenter, T. O., Levy, H. L., Holtrop, M. E., Shih, V. E., Anast, C. S.
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<strong>Lysinuric protein intolerance presenting as childhood osteoporosis: clinical and skeletal response to citrulline therapy.</strong>
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New Eng. J. Med. 312: 290-294, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3917550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3917550</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3917550" 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/NEJM198501313120506" target="_blank">Full Text</a>]
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Duval, M., Fenneteau, O., Doireau, V., Faye, A., Emilie, D., Yotnda, P., Drapier, J.-C., Schlegel, N., Sterkers, G., Ogier de Baulny, H., Vilmer, E.
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<strong>Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance.</strong>
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J. Pediat. 134: 236-239, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931537</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9931537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(99)70423-3" target="_blank">Full Text</a>]
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Font-Llitjos, M., Rodriguez-Santiago, B., Espino, M., Sillue, R., Manas, S., Gomez, L., Perez-Jurado, L. A., Palacin, M., Nunes, V.
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<strong>Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.</strong>
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Europ. J. Hum. Genet. 17: 71-79, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18716612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18716612</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18716612[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18716612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2008.145" target="_blank">Full Text</a>]
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Kato, T., Mizutani, N., Ban, M.
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<strong>Renal transport of lysine and arginine in lysinuric protein intolerance.</strong>
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Europ. J. Pediat. 139: 181-184, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6819142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6819142</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6819142" 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/BF01377352" target="_blank">Full Text</a>]
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Kekomaki, M., Toivakka, E., Hakkinen, V., Salaspuro, M.
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<strong>Familial protein intolerance with deficient transport of basic amino acids. Report on an adult patient with chronic hyperammonemia</strong>
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Acta Med. Scand. 183: 357-359, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5666624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5666624</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5666624" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.0954-6820.1968.tb10491.x" target="_blank">Full Text</a>]
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Kekomaki, M., Visakorpi, J. K., Perheentupa, J., Saxen, L.
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<strong>Familial protein intolerance with deficient transport of basic amino acids: an analysis of 10 patients.</strong>
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Acta Paediat. Scand. 56: 617-630, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6076999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6076999</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6076999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1651-2227.1967.tb15988.x" target="_blank">Full Text</a>]
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Kihara, H., Valente, M., Porter, M. T., Fluharty, A. L.
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<strong>Hyperdibasicaminoaciduria in a mentally retarded homozygote with a peculiar response to phenothiazines.</strong>
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Pediatrics 51: 223-229, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4144453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4144453</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4144453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200236" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/515457" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM197105062841802" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jcp.49.4.345" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/9.3.431" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<367::AID-HUMU9>3.0.CO;2-C" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1971.tb00280.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(70)80333-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01799838" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0046-8177(94)90150-3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(65)92446-3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/jci110120" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(80)80422-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jnnp.52.5.648" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(75)90358-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00273660" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17764084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17764084</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17764084" 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.20589" target="_blank">Full Text</a>]
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<a id="Sperandeo1999" class="mim-anchor"></a>
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Sperandeo, M. P., Buoninconti, A., Passariello, A., Scala, I., Adami, A., Lauteala, T., Mykkanen, J., Andria, G., Sebastio, G.
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<strong>Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report.</strong>
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Prenatal Diag. 19: 771-773, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10451527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10451527</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10451527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Torrents, D., Mykkanen, J., Pineda, M., Feliubadalo, L., Estevez, R., de Cid, R., Sanjurjo, P., Zorzano, A., Nunes, V., Huoponen, K., Reinikainen, A., Simell, O., Savontaus, M.-L., Aula, P., Palacin, M.
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<strong>Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intolerance gene.</strong>
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Nature Genet. 21: 293-296, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10080182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10080182</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10080182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/6809" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Cassandra L. Kniffin - updated : 4/2/2009
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Cassandra L. Kniffin - reorganized : 3/17/2008<br>Victor A. McKusick - updated : 1/5/2000<br>Victor A. McKusick - updated : 3/24/1999<br>Victor A. McKusick - updated : 3/17/1999<br>Victor A. McKusick - updated : 2/23/1999<br>Victor A. McKusick - updated : 6/17/1997<br>Victor A. McKusick - updated : 5/30/1997<br>Victor A. McKusick - updated : 4/1/1997
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Victor A. McKusick : 6/3/1986
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carol : 09/18/2015
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wwang : 4/17/2009<br>terry : 4/9/2009<br>ckniffin : 4/2/2009<br>carol : 3/17/2008<br>ckniffin : 3/5/2008<br>terry : 4/19/2005<br>ckniffin : 12/4/2003<br>alopez : 1/14/2000<br>terry : 1/5/2000<br>carol : 3/30/1999<br>terry : 3/24/1999<br>terry : 3/17/1999<br>alopez : 3/1/1999<br>terry : 2/23/1999<br>carol : 11/17/1998<br>terry : 6/23/1997<br>terry : 6/23/1997<br>terry : 6/17/1997<br>jenny : 6/3/1997<br>terry : 5/30/1997<br>jenny : 4/1/1997<br>terry : 3/21/1997<br>mark : 6/7/1996<br>terry : 6/5/1996<br>carol : 7/28/1994<br>davew : 6/1/1994<br>terry : 5/5/1994<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990
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<strong>#</strong> 222700
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LYSINURIC PROTEIN INTOLERANCE; LPI
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<em>Alternative titles; symbols</em>
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DIBASIC AMINO ACIDURIA II
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<strong>SNOMEDCT:</strong> 303852004;
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<strong>ORPHA:</strong> 470;
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<strong>DO:</strong> 0060439;
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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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<span class="mim-font">
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14q11.2
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<span class="mim-font">
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Lysinuric protein intolerance
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<span class="mim-font">
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222700
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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SLC7A7
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<span class="mim-font">
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603593
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because lysinuric protein intolerance (LPI) is caused by homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 (603593) on chromosome 14q11.</p>
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<strong>Description</strong>
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<p>Lysinuric protein intolerance is caused by defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in kidney and intestine. Metabolic derangement is characterized by increased renal excretion of CAA, reduced CAA absorption from intestine, and orotic aciduria (Borsani et al., 1999). </p><p>See also dibasic amino aciduria I (222690).</p>
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<strong>Clinical Features</strong>
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<p>Perheentupa and Visakorpi (1965) first described 3 Finnish infants with an inborn error of metabolism characterized by protein intolerance and deficient transport of basic amino acids. Blood urea was low and urinary lysine and arginine were increased. </p><p>Kekomaki et al. (1967) described 10 children, including several pairs of sibs, with vomiting, diarrhea, failure to thrive, hepatomegaly, diffuse cirrhosis, low blood urea, hyperammonemia, and leukopenia. Symptoms were aggravated by high protein intake and relieved by protein restriction. An excess of ornithine, arginine, and lysine, but not of cystine, was excreted in the urine. Intestinal absorption of arginine and lysine was normal. A low concentration of arginine relative to lysine in body fluids was thought responsible for the hyperammonemia and reduced urea synthesis. One of the families was consanguineous. </p><p>Kekomaki et al. (1968) reported a 23-year-old man with protein intolerance who refused to eat protein-rich food. Institution of cow's milk at age 1 year resulted in prolonged watery diarrhea and retardation of physical development. He grew physically with increased protein intake in his teens, but mental function deteriorated and he had episodic attacks of stupor and asterixis. The liver was enlarged and fatty. His 15-year-old affected sister also had protein intolerance. </p><p>Oyanagi et al. (1970) described severe mental retardation, physical retardation, mild intestinal malabsorption syndrome, and increased urinary excretion of lysine, ornithine, and arginine in 2 Japanese sisters with second-cousin parents. Cystine excretion was always within normal limits. </p><p>Malmquist et al. (1971) stated that 13 cases of familial protein intolerance had been observed in Finland. They described a Swedish patient of Finnish origin with intellectual impairment, radiographic evidence of brain atrophy, and marked skeletal fragility. Administration of alanine resulted in elevation of blood ammonia and glucose. Urea cycle function appeared to be normal and the defect was thought to concern the mechanisms by which amino nitrogen is transferred to the urea-synthesizing system. </p><p>During citrulline infusion, Rajantie et al. (1981) found that LPI patients had increased plasma citrulline levels similar to controls, but excessive excretion compared to controls. Patients had subnormal increases in plasma arginine and ornithine with massive argininuria and moderate ornithinuria. The excretion rates of the third diamino acid lysine and other amino acids remained practically unaltered, thus excluding mutual competition as the cause for the increases. The results suggested that reabsorption in the normal kidney involves partial conversion of citrulline to arginine and ornithine, and that the diamino acid transport defect in LPI is located at the basolateral cell membrane of the renal tubules. This inhibits the efflux of arginine and ornithine, increasing their cellular concentration, which in turn inhibits the metabolic disposal of citrulline, and causes leakage of arginine, ornithine, and citrulline into the tubular lumen. </p><p>Carpenter et al. (1985) emphasized that childhood osteopenia and osteoporosis were nearly constant complications of lysinuric protein intolerance. Laboratory studies suggested defective transport of ornithine and arginine across the plasma membrane of liver cells and across the basolateral membrane of renotubular cells. The defect in transport of dibasic amino acids results in lack of sufficient ornithine to support activity of hepatic ornithine transcarbamylase (OTC; 300461). Episodic hyperammonemia occurs, similar to that observed in OTC deficiency (311250). </p><p>Shaw et al. (1989) described a 36-year-old man and his 32-year-old brother who presented in adult life with hyperammonemic coma due to lysinuric protein intolerance. They were of normal intellect and had maintained good health, until presentation in their thirties, by unconscious dietary protein avoidance. </p><p>Parto et al. (1994) described the clinical courses and autopsy findings of 4 pediatric LPI patients. All had developed acute respiratory insufficiency. In addition to pulmonary hemorrhages, 3 of them had pulmonary alveolar proteinosis and 1 had cholesterol granulomas. Three patients had clinically obvious renal insufficiency, but all 4 showed histologic signs of immune complex-mediated glomerulonephritis. The patients also developed hepatic insufficiency with fatty degeneration or cirrhosis. All patients showed anemia, thrombocytopenia, and a severe bleeding tendency. Bone marrow of 3 patients was hypercellular, but the number of megakaryocytes was decreased in 2 cases. Amyloid was present in the lymph nodes and spleen. Bone specimens showed osteoporosis. Parto et al. (1994) concluded that in addition to being at risk of protein malnutrition in the active growth phase, probably due to higher requirements for total nitrogen and amino acids, pediatric patients with lysinuric protein intolerance are predisposed to develop pulmonary alveolar proteinosis and glomerulonephritis. </p><p>McManus et al. (1996) reported a 21-year-old woman who had presented at 8 months of age with persistent vomiting and failure to thrive. At that time there was a marked increase in urinary lysine excretion and ornithine and arginine to a lesser extent. The urinary orotic acid concentration was also raised and casein protein loading tests increased the concentrations of all plasma amino acids except lysine, ornithine, and arginine. A protein-restricted diet was recommended and supplements of lysine, arginine, and citrulline were prescribed. During the teenage years, compliance with the diet and amino acid supplements was poor, and she developed osteoporosis. She showed gradual deterioration with episodic disturbances of liver function and hyperammonemia 2 years before her death. Immediately before death she became comatose, had persistently raised serum ammonia concentrations, metabolic acidosis, and a coagulopathy. She died despite intensive therapy, including intravenous arginine for the hyperammonemia. Postmortem examination revealed hepatic micronodular cirrhosis with extensive fatty changes. The lungs showed pulmonary alveolar proteinosis. Immunofluorescence and electron microscopy revealed glomerulonephritis with predominant IgA deposition. McManus et al. (1996) suggested that the glomerulopathy may have been related to the failure of the normal role of the liver in clearance of immune complexes from the circulation. Pulmonary hemorrhage and alveolar proteinosis had also been previously described in Finnish cases. </p><p>In a 3-year-old boy of Norwegian descent with LPI and immune complex disease consistent with systemic lupus erythematosus (SLE; 152700), Parsons et al. (1996) presented evidence suggesting that the immune complex disease may be the basis of the respiratory problems. </p><p>In 4 patients with LPI, Duval et al. (1999) found features that fulfilled the diagnostic criteria for familial hemophagocytic lymphohistiocytosis (HPLH1; 267700). Mature histiocytes and neutrophil precursors participated in hemophagocytosis in the bone marrow. Serum levels of ferritin and lactate dehydrogenase were elevated, hypercytokinemia was present, and soluble interleukin-2 receptor levels were increased up to 18.6-fold. Duval et al. (1999) suggested that the diagnosis of LPI should be considered in any patient presenting with hemophagocytic lymphohistiocytosis. </p>
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<strong>Biochemical Features</strong>
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<span class="mim-text-font">
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<p>Smith et al. (1988) found that, contrary to their findings in cultured skin fibroblasts, LPI red cells showed normal net uptake and efflux of cationic amino acids. </p>
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The studies of Kekomaki et al. (1967) and Norio et al. (1971), who called the condition 'lysinuric protein intolerance,' confirmed autosomal recessive inheritance. </p>
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<h4>
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<strong>Diagnosis</strong>
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<span class="mim-text-font">
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<p>Sperandeo et al. (2008) noted that the diagnosis of LPI is often difficult because of vague clinical presentation. Classic symptoms of protein intolerance may remain unnoticed during the first and second decades of life due to unconscious avoidance of dietary protein. However, patients usually present with gastrointestinal symptoms soon after weaning. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Sperandeo et al. (1999) demonstrated the feasibility of prenatal diagnosis of LPI by linkage analysis. </p>
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<strong>Clinical Management</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a 4-year-old girl with LPI, Carpenter et al. (1985) found that oral citrulline therapy resulted in 'substantial increase in protein tolerance..., striking acceleration of linear growth, as well as increase in bone mass...' Whereas impairment of urea production in LPI results from a defect in the uptake of ornithine in liver cells, citrulline, which is metabolized to arginine and ornithine, is absorbed by a mechanism that is unaffected in LPI. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomewide linkage analysis of 20 Finnish LPI families, Lauteala et al. (1997) found linkage to chromosome 14q (maximum pairwise lod scores of 5.82 at marker D14S742 and 6.91 at D14S283). Haplotype analysis identified a 10-cM candidate interval between D14S72 and MYH7 (160760), which had previously been mapped to 14q12. There was strong evidence for a founder effect in Finland. </p><p>By linkage analysis, Lauteala et al. (1998) concluded that LPI in non-Finnish cases is due to mutation in the same gene on 14q. They studied 19 non-Finnish families, of which 13 were Italian, 1 Swedish, 1 Latvian, 2 Moroccan, 1 Saudi Arabian, and 1 Turkish. These families showed no linkage disequilibrium except in an Italian family cluster. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 31 Finnish patients with lysinuric protein intolerance, Torrents et al. (1999) identified homozygosity for a founder mutation in the SLC7A7 gene (603593.0001). Borsani et al. (1999) defined the Finnish mutation as a splice acceptor change resulting in a frameshift and premature translation termination. </p><p>Torrents et al. (1999) identified compound heterozygosity for 2 SLC7A7 mutations (603593.0005; 603593.0006) in a Spanish LPI patient. In affected members of 2 unrelated Italian LPI families, Borsani et al. (1999) identified 2 different homozygous mutations in the SLC7A7 gene (603593.0002 and 603593.0003, respectively). </p><p>Noguchi et al. (2000) identified SLC7A7 mutations (603593.0008; 603593.0009) in Japanese LPI patients. </p><p>Mykkanen et al. (2000) performed mutation screening of 20 non-Finnish LPI patients and found 10 novel mutations in the SLC7A7 gene. </p><p>Sperandeo et al. (2008) identified 9 novel mutations in the SLC7A7 gene, and noted that a total of 43 different mutations had been identified in over 100 patients with LPI. Mutations were spread throughout the gene with no apparent genotype/phenotype correlations. </p><p>Font-Llitjos et al. (2009) identified 11 mutations in the SLC7A7, including 7 novel mutations, in 11 patients from 9 unrelated families with LPI. Two of the mutations were large deletions involving exons 4 to 11 and exons 6 through 11 (603593.0011), respectively. These deletions were identified using multiplex ligation probe amplification (MLPA) assays and were found to result from the recombination of Alu repeats at introns 3 and 5, respectively, and the same AluY sequence in the 3-prime region of the SLC7A7 gene. Patients with the large deletions had the most severe phenotypes, likely resulting from dramatic loss of transport function. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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Kato et al. (1982); Kihara et al. (1973); Perheentupa and Simell (1974);
|
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Rajantie et al. (1980); Simell et al. (1975); Simell et al. (1980)
|
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Borsani, G., Bassi, M. T., Sperandeo, M. P., De Grandi, A., Buoninconti, A., Riboni, M., Manzoni, M., Incerti, B., Pepe, A., Andria, G., Ballabio, A., Sebastio, G.
|
|
<strong>SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.</strong>
|
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Nature Genet. 21: 297-301, 1999.
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[PubMed: 10080183]
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[Full Text: https://doi.org/10.1038/6815]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Carpenter, T. O., Levy, H. L., Holtrop, M. E., Shih, V. E., Anast, C. S.
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<strong>Lysinuric protein intolerance presenting as childhood osteoporosis: clinical and skeletal response to citrulline therapy.</strong>
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New Eng. J. Med. 312: 290-294, 1985.
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[PubMed: 3917550]
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[Full Text: https://doi.org/10.1056/NEJM198501313120506]
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</p>
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<p class="mim-text-font">
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Duval, M., Fenneteau, O., Doireau, V., Faye, A., Emilie, D., Yotnda, P., Drapier, J.-C., Schlegel, N., Sterkers, G., Ogier de Baulny, H., Vilmer, E.
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<strong>Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance.</strong>
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J. Pediat. 134: 236-239, 1999.
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[PubMed: 9931537]
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[Full Text: https://doi.org/10.1016/s0022-3476(99)70423-3]
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<p class="mim-text-font">
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Font-Llitjos, M., Rodriguez-Santiago, B., Espino, M., Sillue, R., Manas, S., Gomez, L., Perez-Jurado, L. A., Palacin, M., Nunes, V.
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<strong>Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.</strong>
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Europ. J. Hum. Genet. 17: 71-79, 2009.
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[PubMed: 18716612]
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<p class="mim-text-font">
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Kato, T., Mizutani, N., Ban, M.
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<strong>Renal transport of lysine and arginine in lysinuric protein intolerance.</strong>
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Europ. J. Pediat. 139: 181-184, 1982.
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Kekomaki, M., Toivakka, E., Hakkinen, V., Salaspuro, M.
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<strong>Familial protein intolerance with deficient transport of basic amino acids. Report on an adult patient with chronic hyperammonemia</strong>
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Acta Med. Scand. 183: 357-359, 1968.
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[PubMed: 5666624]
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[Full Text: https://doi.org/10.1111/j.0954-6820.1968.tb10491.x]
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Kekomaki, M., Visakorpi, J. K., Perheentupa, J., Saxen, L.
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<strong>Familial protein intolerance with deficient transport of basic amino acids: an analysis of 10 patients.</strong>
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Acta Paediat. Scand. 56: 617-630, 1967.
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[PubMed: 6076999]
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[Full Text: https://doi.org/10.1111/j.1651-2227.1967.tb15988.x]
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Kihara, H., Valente, M., Porter, M. T., Fluharty, A. L.
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<strong>Hyperdibasicaminoaciduria in a mentally retarded homozygote with a peculiar response to phenothiazines.</strong>
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Pediatrics 51: 223-229, 1973.
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[PubMed: 4144453]
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<p class="mim-text-font">
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Lauteala, T., Mykkanen, J., Sperandeo, M. P., Gasparini, P., Savontaus, M.-L., Simell, O., Andria, G., Sebastio, G., Aula, P.
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<strong>Genetic homogeneity of lysinuric protein intolerance.</strong>
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Europ. J. Hum. Genet. 6: 612-615, 1998.
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[PubMed: 9887380]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200236]
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Lauteala, T., Sistonen, P., Savontaus, M.-L., Mykkanen, J., Simell, J., Lukkarinen, M., Simell, O., Aula, P.
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<strong>Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.</strong>
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Am. J. Hum. Genet. 60: 1479-1486, 1997.
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[PubMed: 9199570]
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[Full Text: https://doi.org/10.1086/515457]
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Malmquist, J., Jagenburg, R., Lindstedt, G.
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<strong>Familial protein intolerance: possible nature of enzyme defect.</strong>
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New Eng. J. Med. 284: 997-1002, 1971.
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[PubMed: 5553484]
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[Full Text: https://doi.org/10.1056/NEJM197105062841802]
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McManus, D. T., Moore, R., Hill, C. M., Rodgers, C., Carson, D. J., Love, A. H. G.
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<strong>Necropsy findings in lysinuric protein intolerance.</strong>
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J. Clin. Path. 49: 345-347, 1996.
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[PubMed: 8655715]
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[Full Text: https://doi.org/10.1136/jcp.49.4.345]
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Mykkanen, J., Torrents, D., Pineda, M., Camps, M., Yoldi, M. E., Horelli-Kuitunen, N., Huoponen, K., Heinonen, M., Oksanen, J., Simell, O., Savontaus, M.-L., Zorzano, A., Palacin, M., Aula, P.
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<strong>Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).</strong>
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Hum. Molec. Genet. 9: 431-438, 2000.
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Noguchi, A., Shoji, Y., Koizumi, A., Takahashi, T., Shoji, Y., Matsumori, M., Kayo, T., Ohata, T., Wada, Y., Yoshimura, I., Maisawa, S., Konishi, M., Takasago, Y., Takada, G.
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<strong>SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.</strong>
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Hum. Mutat. 15: 367-372, 2000.
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Norio, R., Perheentupa, J., Kekomaki, M., Visakorpi, J. K.
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<strong>Lysinuric protein intolerance, an autosomal recessive disease: a genetic study of 10 Finnish families.</strong>
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Clin. Genet. 2: 214-222, 1971.
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[PubMed: 5146580]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1971.tb00280.x]
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Oyanagi, K., Miura, R., Yamanouchi, T.
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<strong>Congenital lysinuria: a new inherited transport disorder of dibasic amino acids.</strong>
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J. Pediat. 77: 259-266, 1970.
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[Full Text: https://doi.org/10.1016/s0022-3476(70)80333-x]
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<p class="mim-text-font">
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Parsons, H., Snyder, F., Bowen, T., Klassen, J., Pinto, A.
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<strong>Immune complex disease consistent with systemic lupus erythematosus in a patient with lysinuric protein intolerance.</strong>
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J. Inherit. Metab. Dis. 19: 627-634, 1996.
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[PubMed: 8892019]
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[Full Text: https://doi.org/10.1007/BF01799838]
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<p class="mim-text-font">
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Parto, K., Kallajoki, M., Aho, H., Simell, O.
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<strong>Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of four pediatric patients.</strong>
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Hum. Path. 25: 400-407, 1994.
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[PubMed: 8163273]
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[Full Text: https://doi.org/10.1016/0046-8177(94)90150-3]
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</p>
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<li>
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<p class="mim-text-font">
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Perheentupa, J., Simell, O.
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<strong>Lysinuric protein intolerance.</strong>
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Birth Defects Orig. Art. Ser. X(4): 201-207, 1974.
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</p>
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<li>
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<p class="mim-text-font">
|
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Perheentupa, J., Visakorpi, J. K.
|
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<strong>Protein intolerance with deficient transport of basic amino acids: another inborn error of metabolism.</strong>
|
|
Lancet 292: 813-816, 1965. Note: Originally Volume 2.
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[PubMed: 4158034]
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[Full Text: https://doi.org/10.1016/s0140-6736(65)92446-3]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Rajantie, J., Simell, O., Perheentupa, J.
|
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<strong>Lysinuric protein intolerance: basolateral transport effect in renal tubuli.</strong>
|
|
J. Clin. Invest. 67: 1078-1082, 1981.
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|
|
[PubMed: 7204568]
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[Full Text: https://doi.org/10.1172/jci110120]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Rajantie, J., Simell, O., Rapola, J., Perheentupa, J.
|
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<strong>Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine.</strong>
|
|
J. Pediat. 97: 927-932, 1980.
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|
|
[PubMed: 6777479]
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[Full Text: https://doi.org/10.1016/s0022-3476(80)80422-7]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Shaw, P. J., Dale, G., Bates, D.
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<strong>Familial lysinuric protein intolerance presenting as coma in two adult siblings.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 52: 648-651, 1989.
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|
[PubMed: 2732736]
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[Full Text: https://doi.org/10.1136/jnnp.52.5.648]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Simell, O., Perheentupa, J., Rapola, J., Visakorpi, J. K., Eskelin, L.
|
|
<strong>Lysinuric protein intolerance.</strong>
|
|
Am. J. Med. 59: 229-240, 1975.
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|
[PubMed: 1155480]
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[Full Text: https://doi.org/10.1016/0002-9343(75)90358-7]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Simell, O., Rajantie, J., Perheentupa, J.
|
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<strong>Lysinuric protein intolerance (LPI).In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K. : Population Structure and Genetic Disorders.</strong>
|
|
New York: Academic Press 1980. Pp. 633-636.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Smith, D. W., Scriver, C. R., Simell, O.
|
|
<strong>Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes.</strong>
|
|
Hum. Genet. 80: 395-396, 1988.
|
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|
|
[PubMed: 3143662]
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[Full Text: https://doi.org/10.1007/BF00273660]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Sperandeo, M. P., Andria, G., Sebastio, G.
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|
<strong>Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.</strong>
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|
Hum. Mutat. 29: 14-21, 2008.
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[PubMed: 17764084]
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[Full Text: https://doi.org/10.1002/humu.20589]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Sperandeo, M. P., Buoninconti, A., Passariello, A., Scala, I., Adami, A., Lauteala, T., Mykkanen, J., Andria, G., Sebastio, G.
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<strong>Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report.</strong>
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Prenatal Diag. 19: 771-773, 1999.
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[PubMed: 10451527]
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Torrents, D., Mykkanen, J., Pineda, M., Feliubadalo, L., Estevez, R., de Cid, R., Sanjurjo, P., Zorzano, A., Nunes, V., Huoponen, K., Reinikainen, A., Simell, O., Savontaus, M.-L., Aula, P., Palacin, M.
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<strong>Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intolerance gene.</strong>
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Nature Genet. 21: 293-296, 1999.
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[PubMed: 10080182]
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[Full Text: https://doi.org/10.1038/6809]
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Cassandra L. Kniffin - updated : 4/2/2009<br>Cassandra L. Kniffin - reorganized : 3/17/2008<br>Victor A. McKusick - updated : 1/5/2000<br>Victor A. McKusick - updated : 3/24/1999<br>Victor A. McKusick - updated : 3/17/1999<br>Victor A. McKusick - updated : 2/23/1999<br>Victor A. McKusick - updated : 6/17/1997<br>Victor A. McKusick - updated : 5/30/1997<br>Victor A. McKusick - updated : 4/1/1997
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Victor A. McKusick : 6/3/1986
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