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Entry
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- #253260 - BIOTINIDASE DEFICIENCY
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- OMIM
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<p>
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<span class="h4">#253260</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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<li role="presentation">
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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/253260"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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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="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div 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>
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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=BIOTINIDASE DEFICIENCY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11267&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/NBK1322/" 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/846" 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/biotinidase-deficiency" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=253260[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="#mimNewbornScreeningFold" id="mimNewbornScreeningToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Information and resources for newborn screening and genetics."><span id="mimNewbornScreeningToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Newborn Screening</div>
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<div id="mimNewbornScreeningFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.acmg.net/PDFLibrary/Biotinidase-Deficiency-ACT-Sheet.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG ACT Sheet</a></div><div style="margin-left: 0.5em;"><a href="https://www.acmg.net/PDFLibrary/C5-OH.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG ACT Sheet</a></div><div style="margin-left: 0.5em;"><a href="https://www.acmg.net/PDFLibrary/Biotinidase-Algorithm.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG Algorithm</a></div><div style="margin-left: 0.5em;"><a href="https://www.acmg.net/PDFLibrary/C5-OH-Elevated.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG Algorithm</a></div>
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</div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79241" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/cd822107-a4f4-42d1-82dc-5c24ef905204/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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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:856" 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/253260" 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>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</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="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:253260" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</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>
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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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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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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> 8808004<br />
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<strong>ICD10CM:</strong> D81.810<br />
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<strong>ORPHA:</strong> 79241<br />
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<strong>DO:</strong> 856<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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253260
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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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BIOTINIDASE DEFICIENCY
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<em>Alternative titles; symbols</em>
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</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
BTD DEFICIENCY<br />
|
|
MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET<br />
|
|
MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
|
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</div>
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</div>
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
|
<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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<th>
|
|
Gene/Locus
|
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</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/97?start=-3&limit=10&highlight=97">
|
|
3p25.1
|
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</a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Biotinidase deficiency
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/253260"> 253260 </a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
BTD
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609019"> 609019 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/253260" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/253260" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/253260" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
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|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hearing loss, sensorineural <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Conjunctivitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9826008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9826008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/372.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">372.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009763&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009763</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span><br /> -
|
|
Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br /> -
|
|
Vision loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7973008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7973008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397540003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397540003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H54.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H54.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/369.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">369.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3665346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665346</a>, <a href="https://bioportal.bioontology.org/search?q=C3665386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665386</a>, <a href="https://bioportal.bioontology.org/search?q=C0456909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456909</a>, <a href="https://bioportal.bioontology.org/search?q=C3665347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665347</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000505</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000572</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000572</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>
|
|
<span class="mim-font">
|
|
|
|
- Tachypnea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271823003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271823003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.06" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.06</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231835&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231835</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002789" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002789</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002789" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002789</a>]</span><br /> -
|
|
Apnea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248583008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248583008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1023001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1023001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003578</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002104</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002104</a>]</span><br /> -
|
|
Breathing problems <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386813002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386813002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R06" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1260922&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1260922</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002795" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002795</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> ABDOMEN </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> Liver </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
- 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 />
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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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<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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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Feeding difficulties <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</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 />
|
|
|
|
</span>
|
|
</div>
|
|
</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">
|
|
|
|
- Skin rash <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271807003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271807003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R21</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/782.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">782.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5779629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5779629</a>, <a href="https://bioportal.bioontology.org/search?q=C0015230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015230</a>, <a href="https://bioportal.bioontology.org/search?q=C4318484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4318484</a>, <a href="https://bioportal.bioontology.org/search?q=C5779628&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5779628</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000988" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000988</a>, <a href="https://hpo.jax.org/app/browse/term/HP:4000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:4000054</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000988" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000988</a>]</span><br /> -
|
|
Seborrheic dermatitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50563003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50563003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L21</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L21.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L21.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/690.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">690.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/690.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">690.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036508&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036508</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001051" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001051</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001051" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001051</a>]</span><br /> -
|
|
Skin infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/108365000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">108365000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037278</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100658" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100658</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100658" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100658</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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|
|
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|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Alopecia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278040002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278040002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56317004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56317004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L65.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L65.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/704.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002293</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
</div>
|
|
|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
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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 /> -
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Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
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Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
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Diffuse cerebral atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0598275&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0598275</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002506" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002506</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002506" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002506</a>]</span><br /> -
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Diffuse cerebellar atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854699&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854699</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100275" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100275</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100275" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100275</a>]</span><br /> -
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Lethargy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/214264003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">214264003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023380&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023380</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001254" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001254</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001254" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001254</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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<span class="h5 mim-font">
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<strong> METABOLIC FEATURES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Metabolic ketoacidosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854704&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854704</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005979" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005979</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005979" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005979</a>]</span><br /> -
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Organic aciduria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241775&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241775</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001992</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001992</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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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854700&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854700</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001992</a>]</span><br /> -
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Mild hyperammonemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854701&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854701</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9360008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9360008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E72.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E72.20</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001987" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001987</a>]</span><br /> -
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Biotinidase deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8808004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8808004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D81.810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D81.810</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220754</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Age of onset usually 1 week to 2 years<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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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the biotinidase gene (BTD, <a href="/entry/609019#0001">609019.0001</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because biotinidase deficiency, a form of multiple carboxylase deficiency, is caused by homozygous or compound heterozygous mutation in the BTD gene (<a href="/entry/609019">609019</a>) on chromosome 3p25.</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous and neurologic abnormalities. Symptoms result from the patient's inability to reutilize biotin, a necessary nutrient. <a href="#35" class="mim-tip-reference" title="Sweetman, L. <strong>Two forms of biotin-responsive multiple carboxylase deficiency.</strong> J. Inherit. Metab. Dis. 4: 53-54, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6790844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6790844</a>] [<a href="https://doi.org/10.1007/BF02263587" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6790844">Sweetman (1981)</a> recognized that multiple carboxylase deficiency could be classified into early (see <a href="/entry/253270">253270</a>) and late forms. The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. <a href="#35" class="mim-tip-reference" title="Sweetman, L. <strong>Two forms of biotin-responsive multiple carboxylase deficiency.</strong> J. Inherit. Metab. Dis. 4: 53-54, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6790844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6790844</a>] [<a href="https://doi.org/10.1007/BF02263587" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6790844">Sweetman (1981)</a> proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6790844" 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>Some patients with biotinidase deficiency present in infancy (<a href="#2" class="mim-tip-reference" title="Baumgartner, E. R., Suormala, T., Wick, H., Bausch, J., Bonjour, J.-P. <strong>Biotinidase deficiency: factors responsible for the increased biotin requirement.</strong> J. Inherit. Metab. Dis. 8 (suppl. 1): 59-64, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3930842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3930842</a>] [<a href="https://doi.org/10.1007/BF01800661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3930842">Baumgartner et al., 1985</a>; <a href="#17" class="mim-tip-reference" title="Kalayci, O., Coskun, T., Tokatli, A., Demir, E., Erdem, G., Gungor, C., Yukselen, A., Ozalp, I. <strong>Infantile spasms as the initial symptom of biotinidase deficiency.</strong> J. Pediat. 124: 103-104, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8283357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8283357</a>] [<a href="https://doi.org/10.1016/s0022-3476(94)70263-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8283357">Kalayci et al., 1994</a>), and some individuals with this deficiency are asymptomatic (<a href="#50" class="mim-tip-reference" title="Wolf, B., Norrgard, K., Pomponio, R. J., Mock, D. M., McVoy, J. R. S., Fleischhauer, K., Shapiro, S., Blitzer, M. G., Hymes, J. <strong>Profound biotinidase deficiency in two asymptomatic adults.</strong> Am. J. Med. Genet. 73: 5-9, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9375914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9375914</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19971128)73:1<5::aid-ajmg2>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9375914">Wolf et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3930842+8283357+9375914" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#11" class="mim-tip-reference" title="Gompertz, D., Draffan, G. H., Watts, J. L., Hull, D. <strong>Biotin-responsive beta-methylcrotonylglycinuria.</strong> Lancet 298: 22-24, 1971. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4103667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4103667</a>] [<a href="https://doi.org/10.1016/s0140-6736(71)90009-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4103667">Gompertz et al. (1971)</a> reported a patient with biotin-responsive beta-methylcrotonylglycinuria who had a deficiency of 3-methylcrotonyl-CoA carboxylase (<a href="#12" class="mim-tip-reference" title="Gompertz, D., Goodey, P. A., Bartlett, K. <strong>Evidence for the enzymic defect in beta-methylcrotonylglycinuria.</strong> FEBS Lett. 32: 13-14, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4715674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4715674</a>] [<a href="https://doi.org/10.1016/0014-5793(73)80723-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4715674">Gompertz et al., 1973</a>). On restudy of this patient, <a href="#33" class="mim-tip-reference" title="Sweetman, L., Bates, S. P., Hull, D., Nyhan, W. L. <strong>Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria.</strong> Pediat. Res. 11: 1144-1147, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/917614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">917614</a>] [<a href="https://doi.org/10.1203/00006450-197711000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="917614">Sweetman et al. (1977)</a> found that the patient was severely ketoacidotic, responded both clinically and biochemically to biotin, and excreted tiglylglycine, a metabolite of isoleucine that is excreted by patients with propionic acidemia due to propionyl-CoA carboxylase deficiency (<a href="/entry/606054">606054</a>). The deficiency of 2 mitochondrial carboxylases, both containing biotin, suggested that the fundamental defect was either in the transport of biotin or in the holocarboxylase synthetase that attaches biotin covalently to both carboxylases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4715674+4103667+917614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Charles, B. M., Hosking, G., Green, A., Pollitt, R., Bartlett, K., Taitz, L. S. <strong>Biotin-responsive alopecia and developmental regression.</strong> Lancet 314: 118-120, 1979. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/88555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">88555</a>] [<a href="https://doi.org/10.1016/s0140-6736(79)90003-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="88555">Charles et al. (1979)</a> reported a presumed case of biotinidase deficiency in a 10-month-old boy who presented with dermatitis, alopecia, severe hypotonia, and developmental regression. Urinary organic acid analysis showed high levels of 3-hydroxyisovaleric acid, beta-methylcrotonylglycine, and 3-hydroxypropionic acid. Activities of propionyl CoA-carboxylase, beta-methylcrotonyl CoA-carboxylase, and pyruvate carboxylase in cultured fibroblasts were normal. Treatment with oral biotin resulted in a dramatic clinical improvement, and the authors postulated a defect in biotin absorption or transport. <a href="#19" class="mim-tip-reference" title="Lehnert, W., Niederhoff, H., Junker, A., Saule, H., Frasch, W. <strong>A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria.</strong> Europ. J. Pediat. 132: 107-114, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/499258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">499258</a>] [<a href="https://doi.org/10.1007/BF00447377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="499258">Lehnert et al. (1979)</a> described a 10-week-old girl with hypotonia, recurrent seizures, and 3-methylcrotonylglycine and 3-hydroxyisovaleric acid in the urine. She also had small, but pathologic amounts of urinary propionic acid and methylcitric acid, suggesting a defect in the metabolism of biotin. Clinically and metabolically, the child responded to biotin. <a href="#1" class="mim-tip-reference" title="Bartlett, K., Ng, H., Leonard, J. V. <strong>A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxylisovaleric aciduria.</strong> Clin. Chim. Acta 100: 183-186, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6766095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6766095</a>] [<a href="https://doi.org/10.1016/0009-8981(80)90081-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6766095">Bartlett et al. (1980)</a> reported a child with a combined deficiency of propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, and pyruvate carboxylase. Cultured fibroblasts responded to administration of biotin. The primary defect was thought to involve either biotin metabolism or its intracellular transport. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=88555+499258+6766095" 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="Sander, J. E., Malamud, N., Cowan, M. J., Packman, S., Amman, A. J., Wara, D. W. <strong>Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.</strong> Ann. Neurol. 8: 544-547, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7436398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7436398</a>] [<a href="https://doi.org/10.1002/ana.410080514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7436398">Sander et al. (1980)</a> reported a family with biotin-responsive MCD. Affected children presented with a skin rash, infections, acute intermittent ataxia, and lactic acidosis. Postmortem examination of 1 patient showed atrophy of the superior vermis of the cerebellum, similar to that seen in chronic alcoholism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7436398" 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="#46" class="mim-tip-reference" title="Wolf, B., Grier, R. E., Parker, W. D., Jr., Goodman, S. I., Allen, R. J. <strong>Deficient biotinidase activity in late-onset multiple carboxylase deficiency. (Letter)</strong> New Eng. J. Med. 308: 161, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6848914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6848914</a>] [<a href="https://doi.org/10.1056/NEJM198301203080321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6848914">Wolf et al. (1983)</a> reported 3 children with late-onset multiple carboxylase deficiency from 2 unrelated families. All patients had almost undetectable levels of biotinidase, whereas all 3 parents tested had an intermediate level. <a href="#46" class="mim-tip-reference" title="Wolf, B., Grier, R. E., Parker, W. D., Jr., Goodman, S. I., Allen, R. J. <strong>Deficient biotinidase activity in late-onset multiple carboxylase deficiency. (Letter)</strong> New Eng. J. Med. 308: 161, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6848914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6848914</a>] [<a href="https://doi.org/10.1056/NEJM198301203080321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6848914">Wolf et al. (1983)</a> suggested that the defect in the late-onset form of the disorder may not reside in intestinal absorption of biotin as had been suggested (<a href="#22" class="mim-tip-reference" title="Munnich, A., Saudubray, J. M., Carre, G., Coude, F. X., Ogier, H., Charpentier, C., Frezal, J. <strong>Defective biotin absorption in multiple carboxylase deficiency. (Letter)</strong> Lancet 318: 263 only, 1981. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6114319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6114319</a>] [<a href="https://doi.org/10.1016/s0140-6736(81)90518-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6114319">Munnich et al., 1981</a>; <a href="#38" class="mim-tip-reference" title="Thoene, J. G., Lemons, R. M., Borysko, K. Z., Baker, H. <strong>Juvenile multiple carboxylase deficiency: evidence of impaired biotin absorption. (Abstract)</strong> Pediat. Res. 16: 179A only, 1982."None>Thoene et al., 1982</a>), but rather in biotinidase. <a href="#39" class="mim-tip-reference" title="Thoene, J., Wolf, B. <strong>Biotinidase deficiency in juvenile multiple carboxylase deficiency. (Letter)</strong> Lancet 322: 398 only, 1983. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6135890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6135890</a>] [<a href="https://doi.org/10.1016/s0140-6736(83)90364-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6135890">Thoene and Wolf (1983)</a> suggested that juvenile MCD probably results from impaired generation of free biotin from biotinyl residues of dietary protein. They noted that affected children are born with presumably normal stores of free biotin, but become deficient once dependent on dietary protein-bound biotin. This mechanism explained the clinical variability of the disorder and the relative delay in onset of symptoms compared to the neonatal onset in holocarboxylase synthetase deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6848914+6114319+6135890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Gaudry, M., Munnich, A., Saudubray, J. M., Ogier, H., Mitchell, G., Marsac, C., Causse, M., Marquet, A., Frezal, J. <strong>Deficient liver biotinidase activity in multiple carboxylase deficiency. (Letter)</strong> Lancet 322: 397 only, 1983. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6135889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6135889</a>] [<a href="https://doi.org/10.1016/s0140-6736(83)90363-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6135889">Gaudry et al. (1983)</a> confirmed biotinidase deficiency in a patient with multiple carboxylase deficiency and showed that the deficiency is present also in liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6135889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Fischer, A., Munnich, A., Saudubray, J. M., Mamas, S., Coude, F. X., Charpentier, C., Dray, F., Frezal, J., Griscelli, C. <strong>Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency.</strong> J. Clin. Immun. 2: 35-38, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6212592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6212592</a>] [<a href="https://doi.org/10.1007/BF00915976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6212592">Fischer et al. (1982)</a> reported a patient with MCD and impaired immunoregulatory functions due to defective prostaglandin E (PGE) monocyte production. Both PGE deficiency and immunoregulatory dysfunction responded to biotin administration. The authors suggested that the PGE deficiency resulted from impaired activity of acetyl-CoA carboxylase, which produces malonyl-CoA required for prostaglandin synthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6212592" 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="#49" class="mim-tip-reference" title="Wolf, B., Heard, G. S., Weissbecker, K. A., Secor McVoy, J. R., Grier, R. E., Leshner, R. T. <strong>Biotinidase deficiency: initial clinical features and rapid diagnosis.</strong> Ann. Neurol. 18: 614-617, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4073853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4073853</a>] [<a href="https://doi.org/10.1002/ana.410180517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4073853">Wolf et al. (1985)</a> reviewed the clinical presentation of 31 children with late-onset multiple carboxylase deficiency due to biotinidase deficiency. Symptoms usually appeared by about 3 months of age with seizures as the most frequent initial symptom. Other main features included hypotonia, ataxia, hearing loss, optic atrophy, skin rash, and alopecia. Metabolic abnormalities included ketolactic acidosis and organic aciduria. If untreated, symptoms became progressively worse, resulting in coma and death. Treatment with massive doses of biotin reversed the symptoms of alopecia, skin rash, ataxia, and developmental delay. See review of <a href="#34" class="mim-tip-reference" title="Sweetman, L., Nyhan, W. L. <strong>Inheritable biotin-treatable disorders and associated phenomena.</strong> Annu. Rev. Nutr. 6: 317-343, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3089241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3089241</a>] [<a href="https://doi.org/10.1146/annurev.nu.06.070186.001533" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3089241">Sweetman and Nyhan (1986)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3089241+4073853" 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="Baumgartner, E. R., Suormala, T., Wick, H., Bausch, J., Bonjour, J.-P. <strong>Biotinidase deficiency: factors responsible for the increased biotin requirement.</strong> J. Inherit. Metab. Dis. 8 (suppl. 1): 59-64, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3930842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3930842</a>] [<a href="https://doi.org/10.1007/BF01800661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3930842">Baumgartner et al. (1985)</a> observed that clinical and biochemical consequences of severe biotin deficiency occur within 12 days of birth. In affected patients with BTD deficiency, they found normal intestinal absorption of biotin and urinary loss of biotin and biocytin. <a href="#31" class="mim-tip-reference" title="Suormala, T., Wick, H., Bonjour, J.-P., Baumgartner, E. R. <strong>Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency.</strong> Europ. J. Pediat. 144: 21-26, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3926500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3926500</a>] [<a href="https://doi.org/10.1007/BF00491919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3926500">Suormala et al. (1985)</a> also found normal intestinal biotin absorption and increased urinary excretion of free biotin compared to controls. They concluded that renal loss of biotin was one of the factors contributing to the high biotin requirements in patients with BTD deficiency. Oral biotin supplementation resulted in increased activity of biotin-dependent carboxylases as early as 45 minutes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3926500+3930842" 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="#48" class="mim-tip-reference" title="Wolf, B., Heard, G. S., Jefferson, L. G., Proud, V. K., Nance, W. E., Weissbecker, K. A. <strong>Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.</strong> New Eng. J. Med. 313: 16-19, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4000223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4000223</a>] [<a href="https://doi.org/10.1056/NEJM198507043130104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4000223">Wolf et al. (1985)</a> reported 2 patients with biotinidase deficiency who were identified among 81,243 newborns screened in the first year of a statewide screening program in Virginia. Both probands had mild neurologic symptoms at 2 and 4 months, respectively, and the 2 older sibs of 1 proband had more severe neurologic abnormalities, cutaneous findings, and developmental delay. None of the affected children had acute metabolic decompensation. <a href="#43" class="mim-tip-reference" title="Wastell, H. J., Bartlett, K., Dale, G., Shein, A. <strong>Biotinidase deficiency: a survey of 10 cases.</strong> Arch. Dis. Child. 63: 1244-1249, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3196050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3196050</a>] [<a href="https://doi.org/10.1136/adc.63.10.1244" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3196050">Wastell et al. (1988)</a> studied 10 patients with biotinidase deficiency. Clinical findings at presentation varied, with dermatologic signs (dermatitis and alopecia), neurologic abnormalities (seizures, hypotonia, and ataxia), and recurrent infections being the most common features, although none of these occurred in every case. Treatment with biotin resulted in pronounced, rapid clinical and biochemical improvement, but some patients had residual neurologic damage: neurosensory hearing loss, visual pathway defects, ataxia, and mental retardation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4000223+3196050" 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="#36" class="mim-tip-reference" title="Taitz, L. S., Green, A., Strachan, I., Bartlett, K., Bennet, M. <strong>Biotinidase deficiency and the eye and ear. (Letter)</strong> Lancet 322: 918 only, 1983. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6137736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6137736</a>] [<a href="https://doi.org/10.1016/s0140-6736(83)90913-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6137736">Taitz et al. (1983)</a> reported sensorineural deafness and severe myopia associated with a progressive retinal pigment epithelium dysplasia in a child with biotinidase deficiency, despite normal intelligence and neuromotor function. <a href="#40" class="mim-tip-reference" title="Thuy, L. P., Zielinska, B., Zammarchi, E., Pavari, E., Vierucci, A., Sweetman, F., Sweetman, L., Nyhan, W. L. <strong>Multiple carboxylase deficiency due to deficiency of biotinidase.</strong> J. Neurogenet. 3: 357-363, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3783319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3783319</a>] [<a href="https://doi.org/10.3109/01677068609106859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3783319">Thuy et al. (1986)</a> reported a patient who first presented at age 5 years and had already developed sensorineural abnormalities of the optic and auditory nerves. The abnormalities did not resolve with treatment. <a href="#28" class="mim-tip-reference" title="Schulz, P. E., Weiner, S. P., Belmont, J. W., Fishman, M. A. <strong>Basal ganglia calcifications in a case of biotinidase deficiency.</strong> Neurology 38: 1326-1328, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3399084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3399084</a>] [<a href="https://doi.org/10.1212/wnl.38.8.1326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3399084">Schulz et al. (1988)</a> described bilateral basal ganglia calcifications in a 29-month-old girl with biotinidase deficiency who presented with ataxia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3783319+3399084+6137736" 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>Laryngeal stridor was a striking feature in cases of biotinidase deficiency reported by <a href="#10" class="mim-tip-reference" title="Giardini, O., D'Eufemia, P., Cantani, A., Ruberto, U., Sabetta, G., Castro, M., Cardi, E. <strong>Congenital lactic acidosis associated with laryngeal stridor: report of 2 cases.</strong> Riv. Ital. Pediat. 7: 139-142, 1981."None>Giardini et al. (1981)</a>, <a href="#6" class="mim-tip-reference" title="Dionisi-Vici, C., Bachmann, C., Graziani, M. C., Sabetta, G. <strong>Laryngeal stridor as a leading symptom in a biotinidase-deficient patient.</strong> J. Inherit. Metab. Dis. 11: 312-313, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3148078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3148078</a>] [<a href="https://doi.org/10.1007/BF01800381" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3148078">Dionisi-Vici et al. (1988)</a>, and <a href="#41" class="mim-tip-reference" title="Tokatli, A., Coskun, T., Ozalp, I., Gunay, M. <strong>The major presenting symptom in a biotinidase-deficient patient: laryngeal stridor.</strong> J. Inherit. Metab. Dis. 15: 281-282, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1527996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1527996</a>] [<a href="https://doi.org/10.1007/BF01799644" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1527996">Tokatli et al. (1992)</a>. The patient of <a href="#41" class="mim-tip-reference" title="Tokatli, A., Coskun, T., Ozalp, I., Gunay, M. <strong>The major presenting symptom in a biotinidase-deficient patient: laryngeal stridor.</strong> J. Inherit. Metab. Dis. 15: 281-282, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1527996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1527996</a>] [<a href="https://doi.org/10.1007/BF01799644" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1527996">Tokatli et al. (1992)</a> was a 30-month-old girl admitted with acute spastic laryngitis. At the ages of 10, 18, and 29 months, she had developed a noisy breathing pattern diagnosed as bronchitis that persisted for several weeks despite antibiotic therapy. At age 23 months, she developed erythematous cutaneous lesions involving the entire body, followed by seborrheic dermatitis of the scalp and sudden-onset alopecia. Laboratory analysis showed lactic acidosis and increased serum and urinary alanine. Normalization of both the respiratory symptoms and the metabolic abnormalities occurred within 2 hours of starting biotin therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3148078+1527996" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Kalayci, O., Coskun, T., Tokatli, A., Demir, E., Erdem, G., Gungor, C., Yukselen, A., Ozalp, I. <strong>Infantile spasms as the initial symptom of biotinidase deficiency.</strong> J. Pediat. 124: 103-104, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8283357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8283357</a>] [<a href="https://doi.org/10.1016/s0022-3476(94)70263-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8283357">Kalayci et al. (1994)</a> described 2 patients with biotinidase deficiency who were diagnosed with infantile spasms at 1 month of age. They concluded that biotinidase deficiency may present early in the neonatal period without characteristic findings such as alopecia and seborrheic dermatitis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8283357" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Suormala, T. M., Baumgartner, E. R., Wick, H., Scheibenreiter, S., Schweitzer, S. <strong>Comparison of patients with complete and partial biotinidase deficiency: biochemical studies.</strong> J. Inherit. Metab. Dis. 13: 76-92, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2109151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2109151</a>] [<a href="https://doi.org/10.1007/BF01799335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2109151">Suormala et al. (1990)</a> compared 13 infants with partial biotinidase deficiency, detected in neonatal screening in Switzerland, Germany, and Austria, with 4 patients with classic biotinidase deficiency. Residual enzyme activity was present in the 'partial' cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2109151" 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="#50" class="mim-tip-reference" title="Wolf, B., Norrgard, K., Pomponio, R. J., Mock, D. M., McVoy, J. R. S., Fleischhauer, K., Shapiro, S., Blitzer, M. G., Hymes, J. <strong>Profound biotinidase deficiency in two asymptomatic adults.</strong> Am. J. Med. Genet. 73: 5-9, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9375914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9375914</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19971128)73:1<5::aid-ajmg2>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9375914">Wolf et al. (1997)</a> reported 2 unrelated asymptomatic adults with biotinidase deficiency who were diagnosed only because their affected children were identified by newborn screening. One patient was a 32-year-old Caucasian man who had never had symptoms of the disorder and showed no physical or neurologic abnormalities. His diet was not unusually enriched with biotin-containing foods, he did not pursue a low-protein diet, and he did not take supplemental vitamins. His parents were consanguineous and he was related to his wife. The family of this man and his wife was of German ancestry and could be traced back to the 1750s to a common founding ancestor who lived in the same small rural community in northwestern Virginia where they lived. The second asymptomatic adult reported by <a href="#50" class="mim-tip-reference" title="Wolf, B., Norrgard, K., Pomponio, R. J., Mock, D. M., McVoy, J. R. S., Fleischhauer, K., Shapiro, S., Blitzer, M. G., Hymes, J. <strong>Profound biotinidase deficiency in two asymptomatic adults.</strong> Am. J. Med. Genet. 73: 5-9, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9375914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9375914</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19971128)73:1<5::aid-ajmg2>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9375914">Wolf et al. (1997)</a> was a 36-year-old Caucasian woman who had had no symptoms of the disorder and no dietary restrictions or abnormalities. A 15-year-old daughter was also found to have profound biotinidase deficiency but no clinical symptoms of the disorder, with the possible exception of a skin rash that occurred a few months earlier, was described as 'hives,' and resolved spontaneously. The mother's parentage was French Canadian and consanguineous; her husband was of Northern Irish background and not known to be related to her. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9375914" 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>From a review of the literature on biotinidase deficiency, <a href="#37" class="mim-tip-reference" title="Tankeu, A. T., Van Winckel, G., Elmers, J., Jaccard, E., Superti-Furga, A., Wolf, B., Tran, C. <strong>Biotinidase deficiency: What have we learned in forty years?</strong> Molec. Genet. Metab. 138: 107560, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37027963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37027963</a>] [<a href="https://doi.org/10.1016/j.ymgme.2023.107560" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37027963">Tankeu et al. (2023)</a> reported clinical features of 1113 patients, 51.5% of whom were identified by newborn screening. Symptoms at clinical presentation were reported in 482 patients and included nervous system involvement (67.2%), dermatologic findings (53.7%), ophthalmologic findings (34.4%), audiologic abnormalities (26.9%), and respiratory symptoms (17.8%). Most patients had multisystem findings, although 9.3% of patients presented with isolated ophthalmologic findings. Twenty-nine of the patients were diagnosed with biotinidase deficiency at age 16 years or older, and 31% of this cohort had neurologic findings including gait abnormalities, muscle weakness, ataxia, and/or seizures. Brain MRI findings included diffuse T2-weighted hyperintense signals. Partial biotinidase deficiency was diagnosed in 384 individuals in the patient cohort, and the 2 most common symptoms were neurologic symptoms in 11.2% and skin problems in 9.6%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37027963" 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="#14" class="mim-tip-reference" title="Hart, P. S., Hymes, J., Wolf, B. <strong>Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency.</strong> Am. J. Hum. Genet. 50: 126-136, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1729884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1729884</a>]" pmid="1729884">Hart et al. (1992)</a> studied the biochemical and immunologic characteristics of biotinidase in sera from 68 children with profound biotinidase deficiency (defined as less than 10% of mean normal activity) who had been identified symptomatically and by newborn screening. Patients could be classified into at least 9 distinct biochemical phenotypes, on the basis of the presence or absence of crossreacting material (CRM) to biotinidase, the number of isoelectric focusing isoforms, and the distribution frequency of the isoforms. No relationship was found between either the age at onset or the severity of symptoms and the isoform patterns or CRM status of the symptomatic children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1729884" 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="#30" class="mim-tip-reference" title="Suormala, T. M., Baumgartner, E. R., Wick, H., Scheibenreiter, S., Schweitzer, S. <strong>Comparison of patients with complete and partial biotinidase deficiency: biochemical studies.</strong> J. Inherit. Metab. Dis. 13: 76-92, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2109151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2109151</a>] [<a href="https://doi.org/10.1007/BF01799335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2109151">Suormala et al. (1990)</a> suggested treatment with biotin for all patients with residual activities below 10%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2109151" 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 review of 1113 reported patients with biotinidase deficiency, <a href="#37" class="mim-tip-reference" title="Tankeu, A. T., Van Winckel, G., Elmers, J., Jaccard, E., Superti-Furga, A., Wolf, B., Tran, C. <strong>Biotinidase deficiency: What have we learned in forty years?</strong> Molec. Genet. Metab. 138: 107560, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37027963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37027963</a>] [<a href="https://doi.org/10.1016/j.ymgme.2023.107560" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37027963">Tankeu et al. (2023)</a> found that treatment with biotin resulted in clinical improvement or stability in 89.2% of patients. Seven of 9 patients (77.8%) had improvement in MRI findings. Some clinical symptoms, such as ataxia or muscle weakness, were reversible after treatment, whereas others, such as hearing loss, optic atrophy (except in rare cases), and impaired intellectual disability, did not improve with treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37027963" 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 10 of 25 patients with biotinidase deficiency, <a href="#26" class="mim-tip-reference" title="Pomponio, R. J., Reynolds, T. R., Cole, H., Buck, G. A., Wolf, B. <strong>Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.</strong> Nature Genet. 11: 96-98, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550325</a>] [<a href="https://doi.org/10.1038/ng0995-96" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550325">Pomponio et al. (1995)</a> identified an allele with a 7-bp deletion and a 3-bp insertion in the BTD gene (<a href="/entry/609019#0001">609019.0001</a>). In 37 symptomatic children (30 index cases and 7 sibs) with profound biotinidase deficiency, <a href="#25" class="mim-tip-reference" title="Pomponio, R. J., Hymes, J., Reynolds, T. R., Meyers, G. A., Fleischhauer, K., Buck, G. A., Wolf, B. <strong>Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.</strong> Pediat. Res. 42: 840-848, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9396567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9396567</a>] [<a href="https://doi.org/10.1203/00006450-199712000-00020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9396567">Pomponio et al. (1997)</a> identified 21 mutations in the BTD gene. The 2 most common mutations were the del7/ins3 mutation and R538C (<a href="/entry/609019#0003">609019.0003</a>); these 2 mutations were found in 31 of 60 alleles (52%), whereas the remainder of the alleles were accounted for by the 19 other unique mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7550325+9396567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated asymptomatic adults with biotinidase deficiency who were diagnosed because their children were identified by newborn screening, <a href="#50" class="mim-tip-reference" title="Wolf, B., Norrgard, K., Pomponio, R. J., Mock, D. M., McVoy, J. R. S., Fleischhauer, K., Shapiro, S., Blitzer, M. G., Hymes, J. <strong>Profound biotinidase deficiency in two asymptomatic adults.</strong> Am. J. Med. Genet. 73: 5-9, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9375914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9375914</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19971128)73:1<5::aid-ajmg2>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9375914">Wolf et al. (1997)</a> identified 2 different homozygous mutations in the BTD gene (<a href="/entry/609019#0005">609019.0005</a>; <a href="/entry/609019#0006">609019.0006</a>). <a href="#50" class="mim-tip-reference" title="Wolf, B., Norrgard, K., Pomponio, R. J., Mock, D. M., McVoy, J. R. S., Fleischhauer, K., Shapiro, S., Blitzer, M. G., Hymes, J. <strong>Profound biotinidase deficiency in two asymptomatic adults.</strong> Am. J. Med. Genet. 73: 5-9, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9375914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9375914</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19971128)73:1<5::aid-ajmg2>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9375914">Wolf et al. (1997)</a> concluded that epigenetic factors may protect some enzyme-deficient individuals from developing symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9375914" 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="#24" class="mim-tip-reference" title="Pomponio, R. J., Coskun, T., Demirkol, M., Tokatli, A., Ozalp, I., Huner, G., Baykal, T., Wolf, B. <strong>Novel mutations cause biotinidase deficiency in Turkish children.</strong> J. Inherit. Metab. Dis. 23: 120-128, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10801053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10801053</a>] [<a href="https://doi.org/10.1023/a:1005609614443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10801053">Pomponio et al. (2000)</a> identified homozygous and compound heterozygous mutations in the BTD gene (<a href="/entry/609019#0001">609019.0001</a>; <a href="/entry/609019#0009">609019.0009</a>-<a href="/entry/609019#0011">609019.0011</a>) in Turkish children with biotinidase deficiency identified both clinically and by newborn screening. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10801053" 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="Carvalho, N. O., del Castillo, D. M., Januario, J. N., Starling, A. L. P., Arantes, R. R., Norton, R. C., Viana, M. B. <strong>Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.</strong> Am. J. Med. Genet. 179A: 978-982, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30912303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30912303</a>] [<a href="https://doi.org/10.1002/ajmg.a.61137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30912303">Carvalho et al. (2019)</a> reported molecular and serum enzyme testing results in 14 Brazilian children with biotinidase deficiency who were identified by newborn screening. Nine novel mutations were identified, including 2 deletions and 7 missense mutations. Seven of the mutations were found in exon 4, which encodes the C terminus. Among the missense mutations that were identified in homozygous state, F361V (<a href="/entry/609019#0012">609019.0012</a>) led to partial biotinidase deficiency in 2 unrelated patients, and A534V (<a href="/entry/609019#0013">609019.0013</a>) led to profound biotinidase deficiency in 1 patient. The previously reported D444H mutation (<a href="/entry/609019#0005">609019.0005</a>) was found in compound heterozygosity in 7 patients; 5 of the patients had partial biotinidase deficiency, including one with compound heterozygosity for A534V and one with compound heterozygosity for F361V, and 2 of the patients had possible partial biotinidase deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30912303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#29" class="mim-tip-reference" title="Sivri, H. S. K., Genc, G. A., Tokatli, A., Dursun, A., Coskun, T., Aydyn, H. I., Sennaroglu, L., Belgin, E., Jensen, K., Wolf, B. <strong>Hearing loss in biotinidase deficiency: genotype-phenotype correlation.</strong> J. Pediat. 150: 439-442, 2007. Note: Erratum: J. Pediat. 151: 222 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17382128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17382128</a>] [<a href="https://doi.org/10.1016/j.jpeds.2007.01.036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17382128">Sivri et al. (2007)</a> reported 20 Turkish patients with biotinidase deficiency. All except 1 were born of consanguineous parents. Variable hearing loss was present in 11 (55%) children. There were no significant differences in mean age of onset of symptoms, age of diagnosis, or time from onset to diagnosis between those with hearing loss and those with normal hearing. However, all symptomatic children with hearing loss were homozygous for null mutations in the BTD gene, whereas symptomatic children without hearing loss were all homozygous for missense mutations resulting in some residual protein function. Most notably, 3 symptom-free children, who had been ascertained and treated soon after birth because an older sib was affected, had normal hearing despite being homozygous for a null mutation. Combined with previous data, <a href="#29" class="mim-tip-reference" title="Sivri, H. S. K., Genc, G. A., Tokatli, A., Dursun, A., Coskun, T., Aydyn, H. I., Sennaroglu, L., Belgin, E., Jensen, K., Wolf, B. <strong>Hearing loss in biotinidase deficiency: genotype-phenotype correlation.</strong> J. Pediat. 150: 439-442, 2007. Note: Erratum: J. Pediat. 151: 222 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17382128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17382128</a>] [<a href="https://doi.org/10.1016/j.jpeds.2007.01.036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17382128">Sivri et al. (2007)</a> concluded that homozygosity or compound heterozygosity for null mutations increases the risk that a symptomatic patient with biotinidase deficiency will have hearing loss, and noted that early treatment is beneficial. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17382128" 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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Newborn screening for biotinidase deficiency identifies children with profound biotinidase deficiency (less than 10% of mean normal serum activity) and those with partial biotinidase deficiency (10 to 30% of mean normal serum activity). Children with partial biotinidase deficiency who are not treated with biotin do not exhibit symptoms unless they are stressed by prolonged infection (<a href="#32" class="mim-tip-reference" title="Swango, K. L., Demirkol, M., Huner, G., Pronicka, E., Sykut-Cegielska, J., Schulze, A., Wolf, B. <strong>Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.</strong> Hum. Genet. 102: 571-575, 1998. Note: Erratum: Hum. Genet. 102: 712 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9654207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9654207</a>] [<a href="https://doi.org/10.1007/s004390050742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9654207">Swango et al., 1998</a>). <a href="#49" class="mim-tip-reference" title="Wolf, B., Heard, G. S., Weissbecker, K. A., Secor McVoy, J. R., Grier, R. E., Leshner, R. T. <strong>Biotinidase deficiency: initial clinical features and rapid diagnosis.</strong> Ann. Neurol. 18: 614-617, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4073853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4073853</a>] [<a href="https://doi.org/10.1002/ana.410180517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4073853">Wolf et al. (1985)</a> described a simple, rapid, semiquantitative colorimetric method that could be done on whole blood spotted on filter paper as for PKU (<a href="/entry/261600">261600</a>) testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9654207+4073853" 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 northeastern Italy, <a href="#3" class="mim-tip-reference" title="Burlina, A. B., Sherwood, W. G., Marchioro, M. V., Dalla Bernardina, B., Gaburro, D. <strong>Neonatal screening for biotinidase deficiency in north eastern Italy.</strong> Europ. J. Pediat. 147: 317-318, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3391228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3391228</a>] [<a href="https://doi.org/10.1007/BF00442706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3391228">Burlina et al. (1988)</a> incorporated screening of biotinidase deficiency into a neonatal mass screening program. During a 6-month period, 1 affected infant was identified among 24,300 newborns, which the authors noted was as common as other well-known metabolic disorders for which mass screening was available. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3391228" 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>On the basis of the screening of 163,000 newborn filter-paper blood samples for serum biotinidase deficiency, <a href="#7" class="mim-tip-reference" title="Dunkel, G., Scriver, C. R., Clow, C. L., Melancon, S., Lemieux, B., Grenier, A., Laberge, C. <strong>Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn.</strong> J. Inherit. Metab. Dis. 12: 131-138, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2502673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2502673</a>] [<a href="https://doi.org/10.1007/BF01800715" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2502673">Dunkel et al. (1989)</a> identified 3 with complete deficiency, representing an incidence of 18.4 cases per million live births, and 12 with partial deficiency. The complete deficiency cases represented homozygotes and the partial deficiency cases heterozygotes. The number of heterozygotes found by screening was much less than predicted, probably because the screening test detected only outliers. Biotinidase deficiency was found to be more common in French Canadians than in other ethnic groups in Quebec; however, no evidence of regional clustering or founder effect was detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2502673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#44" class="mim-tip-reference" title="Weissbecker, K. A., Nance, W. E., Eaves, L. J., Piussan, C., Wolf, B. <strong>Statistical approaches for the detection of heterozygotes for biotinidase deficiency.</strong> Am. J. Med. Genet. 39: 385-390, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1877614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1877614</a>] [<a href="https://doi.org/10.1002/ajmg.1320390404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1877614">Weissbecker et al. (1991)</a> explored 3 statistical methods for identifying heterozygotes on the basis of serum biotinidase activity. By the preferred method, frequency of heterozygotes in an adult French population was estimated to be 0.012, which was similar to that estimated from the results of neonatal screening. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1877614" 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="Kennedy, R., Girdwood, R. W. A., King, M. D. <strong>Neonatal screening for biotinidase deficiency: a pilot study in Scotland.</strong> J. Inherit. Metab. Dis. 12: 344-345, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2515386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2515386</a>] [<a href="https://doi.org/10.1007/BF01799237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2515386">Kennedy et al. (1989)</a> reported the results of a neonatal screening program for biotinidase deficiency in Scotland. Of 102,393 infants screened from 1985 to 1987, no positive cases were found. <a href="#20" class="mim-tip-reference" title="Minns, R. A., Kirk, J. <strong>Biotinidase deficiency in Scotland. (Letter)</strong> Dev. Med. Child Neurol. 36: 748-749, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8050627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8050627</a>]" pmid="8050627">Minns and Kirk (1994)</a> reported that, after discontinuation of the pilot study, 3 cases of biotinidase deficiency had been diagnosed in Scotland. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8050627+2515386" 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="Norrgard, K. J., Pomponio, R. J., Hymes, J., Wolf, B. <strong>Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.</strong> Pediat. Res. 46: 20-27, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10400129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10400129</a>] [<a href="https://doi.org/10.1203/00006450-199907000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10400129">Norrgard et al. (1999)</a> compared the mutations in a group of 59 children with profound biotinidase deficiency who were identified by newborn screening in the United States with those in 33 children ascertained by exhibiting symptoms. Of the 40 total mutations identified among the 2 populations, 4 mutations comprised 59% of the disease alleles studied. Two of these mutations occurred in both populations, but in the symptomatic group at a significantly greater frequency. The other 2 common mutations occurred only in the newborn screening group. Because 2 common mutations did not occur in the symptomatic population, <a href="#23" class="mim-tip-reference" title="Norrgard, K. J., Pomponio, R. J., Hymes, J., Wolf, B. <strong>Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.</strong> Pediat. Res. 46: 20-27, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10400129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10400129</a>] [<a href="https://doi.org/10.1203/00006450-199907000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10400129">Norrgard et al. (1999)</a> considered it possible that individuals with these mutations either developed mild or no symptoms if left untreated. However, biotin treatment was still recommended. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10400129" 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="Hymes, J., Stanley, C. M., Wolf, B. <strong>Mutations in BTD causing biotinidase deficiency.</strong> Hum. Mutat. 18: 375-381, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11668630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11668630</a>] [<a href="https://doi.org/10.1002/humu.1208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11668630">Hymes et al. (2001)</a> reported that 61 mutations in 3 of the 4 exons of the BTD gene and 1 mutation in an intron had been described as the cause of profound BTD deficiency. Two mutations, del7/ins3 and R538C, were present in 52% or 31 of 60 alleles found in symptomatic patients. Three other mutations accounted for 52% of alleles detected by newborn screening in the United States. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11668630" 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="#21" class="mim-tip-reference" title="Muhl, A., Moslinger, D., Item, C. B., Stockler-Ipsiroglu, S. <strong>Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.</strong> Europ. J. Hum. Genet. 9: 237-243, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11313766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11313766</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11313766">Muhl et al. (2001)</a> identified 21 patients with profound and 13 unrelated patients with partial biotinidase deficiency from 30 unrelated families during a 12-year nationwide newborn screening in nearly 1 million newborns in Austria. By DGGE analysis and sequencing, they detected 59 of the 60 (98%) expected mutant alleles. A total of 13 different mutations were identified, with 4 common mutations comprising 78% of the BTD alleles. Of 13 children with partial biotinidase deficiency, the D444H mutation (<a href="/entry/609019#0005">609019.0005</a>) was found in 12, usually with a mutation causing profound deficiency in the other allele. Only 2 patients homozygous for a frameshift mutation had no measurable residual enzyme activity, and both patients developed clinical symptoms before biotin supplementation. The authors concluded that mutation analysis could not predict whether or not an untreated patient will develop symptoms; however, they found it essential to differentiate biochemically between patients with lower or higher than 1% residual biotinidase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11313766" 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>Among 1,066,888 Brazilian newborns screened between June 2013 and December 2017, <a href="#4" class="mim-tip-reference" title="Carvalho, N. O., del Castillo, D. M., Januario, J. N., Starling, A. L. P., Arantes, R. R., Norton, R. C., Viana, M. B. <strong>Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.</strong> Am. J. Med. Genet. 179A: 978-982, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30912303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30912303</a>] [<a href="https://doi.org/10.1002/ajmg.a.61137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30912303">Carvalho et al. (2019)</a> reported that 119 were identified as biotinidase-deficient; enzyme activity was less than 30% in 84 and in the borderline range in 35. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30912303" 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="#Greter1985" class="mim-tip-reference" title="Greter, J., Holme, E., Lindstedt, S., Koivikko, M. <strong>Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency.</strong> J. Inherit. Metab. Dis. 8: 103-104, 1985.">Greter et al. (1985)</a>; <a href="#Heard1986" class="mim-tip-reference" title="Heard, G. S., Wolf, B., Jefferson, L. G., Weissbecker, K. A., Nance, W. E., Secor McVoy, J. R., Napolitano, A., Mitchell, P. L., Lambert, F. W., Linyear, A. S. <strong>Neonatal screening for biotinidase deficiency: results of a 1-year pilot study.</strong> J. Pediat. 108: 40-46, 1986.">Heard et al. (1986)</a>; <a href="#Wallace1985" class="mim-tip-reference" title="Wallace, S. J. <strong>Biotinidase deficiency: presymptomatic treatment.</strong> Arch. Dis. Child. 60: 574-575, 1985.">Wallace (1985)</a>; <a href="#Wolf1983" class="mim-tip-reference" title="Wolf, B., Grier, R. E., Parker, W. D., Jr., Goodman, S. I., Allen, R. J. <strong>Deficient biotinidase activity in late-onset multiple carboxylase deficiency. (Letter)</strong> New Eng. J. Med. 308: 161, 1983.">Wolf et
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al. (1983)</a>; <a href="#Wolf1985" class="mim-tip-reference" title="Wolf, B., Heard, G. S., Weissbecker, K. A., Secor McVoy, J. R., Grier, R. E., Leshner, R. T. <strong>Biotinidase deficiency: initial clinical features and rapid diagnosis.</strong> Ann. Neurol. 18: 614-617, 1985.">Wolf et al. (1985)</a>
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Bartlett, K., Ng, H., Leonard, J. V.
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Clin. Chim. Acta 100: 183-186, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6766095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6766095</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6766095" 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/10.1016/0009-8981(80)90081-9" target="_blank">Full Text</a>]
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Baumgartner, E. R., Suormala, T., Wick, H., Bausch, J., Bonjour, J.-P.
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<strong>Biotinidase deficiency: factors responsible for the increased biotin requirement.</strong>
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J. Inherit. Metab. Dis. 8 (suppl. 1): 59-64, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3930842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3930842</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3930842" 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/BF01800661" target="_blank">Full Text</a>]
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<a id="Burlina1988" class="mim-anchor"></a>
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Burlina, A. B., Sherwood, W. G., Marchioro, M. V., Dalla Bernardina, B., Gaburro, D.
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<strong>Neonatal screening for biotinidase deficiency in north eastern Italy.</strong>
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Europ. J. Pediat. 147: 317-318, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3391228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3391228</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3391228" 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/BF00442706" target="_blank">Full Text</a>]
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Carvalho, N. O., del Castillo, D. M., Januario, J. N., Starling, A. L. P., Arantes, R. R., Norton, R. C., Viana, M. B.
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<strong>Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.</strong>
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Am. J. Med. Genet. 179A: 978-982, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30912303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30912303</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30912303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Charles, B. M., Hosking, G., Green, A., Pollitt, R., Bartlett, K., Taitz, L. S.
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<strong>Biotin-responsive alopecia and developmental regression.</strong>
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Lancet 314: 118-120, 1979. Note: Originally Volume 2.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/88555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">88555</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=88555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(79)90003-5" target="_blank">Full Text</a>]
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Dionisi-Vici, C., Bachmann, C., Graziani, M. C., Sabetta, G.
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<strong>Laryngeal stridor as a leading symptom in a biotinidase-deficient patient.</strong>
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J. Inherit. Metab. Dis. 11: 312-313, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3148078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3148078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3148078" 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/BF01800381" target="_blank">Full Text</a>]
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Dunkel, G., Scriver, C. R., Clow, C. L., Melancon, S., Lemieux, B., Grenier, A., Laberge, C.
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<strong>Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn.</strong>
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J. Inherit. Metab. Dis. 12: 131-138, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2502673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2502673</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2502673" 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/BF01800715" target="_blank">Full Text</a>]
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Fischer, A., Munnich, A., Saudubray, J. M., Mamas, S., Coude, F. X., Charpentier, C., Dray, F., Frezal, J., Griscelli, C.
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<strong>Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency.</strong>
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J. Clin. Immun. 2: 35-38, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6212592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6212592</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6212592" 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/BF00915976" target="_blank">Full Text</a>]
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Gaudry, M., Munnich, A., Saudubray, J. M., Ogier, H., Mitchell, G., Marsac, C., Causse, M., Marquet, A., Frezal, J.
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<strong>Deficient liver biotinidase activity in multiple carboxylase deficiency. (Letter)</strong>
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Lancet 322: 397 only, 1983. Note: Originally Volume 2.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6135889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6135889</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6135889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(83)90363-x" target="_blank">Full Text</a>]
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Giardini, O., D'Eufemia, P., Cantani, A., Ruberto, U., Sabetta, G., Castro, M., Cardi, E.
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<strong>Congenital lactic acidosis associated with laryngeal stridor: report of 2 cases.</strong>
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Riv. Ital. Pediat. 7: 139-142, 1981.
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Gompertz, D., Draffan, G. H., Watts, J. L., Hull, D.
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<strong>Biotin-responsive beta-methylcrotonylglycinuria.</strong>
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Lancet 298: 22-24, 1971. Note: Originally Volume 2.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4103667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4103667</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4103667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(71)90009-2" target="_blank">Full Text</a>]
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Gompertz, D., Goodey, P. A., Bartlett, K.
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<strong>Evidence for the enzymic defect in beta-methylcrotonylglycinuria.</strong>
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FEBS Lett. 32: 13-14, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4715674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4715674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4715674" 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/10.1016/0014-5793(73)80723-9" target="_blank">Full Text</a>]
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Greter, J., Holme, E., Lindstedt, S., Koivikko, M.
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<strong>Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency.</strong>
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[<a href="https://doi.org/10.1007/BF01799335" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
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<a id="Suormala1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Suormala, T., Wick, H., Bonjour, J.-P., Baumgartner, E. R.
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<strong>Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency.</strong>
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Europ. J. Pediat. 144: 21-26, 1985.
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[<a href="https://doi.org/10.1007/BF00491919" target="_blank">Full Text</a>]
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<a id="Swango1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Swango, K. L., Demirkol, M., Huner, G., Pronicka, E., Sykut-Cegielska, J., Schulze, A., Wolf, B.
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<strong>Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.</strong>
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Hum. Genet. 102: 571-575, 1998. Note: Erratum: Hum. Genet. 102: 712 only, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9654207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9654207</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9654207" 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/s004390050742" target="_blank">Full Text</a>]
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<a id="Sweetman1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sweetman, L., Bates, S. P., Hull, D., Nyhan, W. L.
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<strong>Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/917614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">917614</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=917614" 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/10.1203/00006450-197711000-00006" target="_blank">Full Text</a>]
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<a id="Sweetman1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sweetman, L., Nyhan, W. L.
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<strong>Inheritable biotin-treatable disorders and associated phenomena.</strong>
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Annu. Rev. Nutr. 6: 317-343, 1986.
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[<a href="https://doi.org/10.1146/annurev.nu.06.070186.001533" target="_blank">Full Text</a>]
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<a id="Sweetman1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sweetman, L.
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<strong>Two forms of biotin-responsive multiple carboxylase deficiency.</strong>
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J. Inherit. Metab. Dis. 4: 53-54, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6790844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6790844</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6790844" 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/BF02263587" target="_blank">Full Text</a>]
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<a id="Taitz1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Taitz, L. S., Green, A., Strachan, I., Bartlett, K., Bennet, M.
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<strong>Biotinidase deficiency and the eye and ear. (Letter)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6137736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6137736</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6137736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(83)90913-3" target="_blank">Full Text</a>]
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<a id="Tankeu2023" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tankeu, A. T., Van Winckel, G., Elmers, J., Jaccard, E., Superti-Furga, A., Wolf, B., Tran, C.
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<strong>Biotinidase deficiency: What have we learned in forty years?</strong>
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[<a href="https://doi.org/10.1016/j.ymgme.2023.107560" target="_blank">Full Text</a>]
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<a id="38" class="mim-anchor"></a>
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<a id="Thoene1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thoene, J. G., Lemons, R. M., Borysko, K. Z., Baker, H.
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<strong>Juvenile multiple carboxylase deficiency: evidence of impaired biotin absorption. (Abstract)</strong>
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<a id="39" class="mim-anchor"></a>
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<a id="Thoene1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thoene, J., Wolf, B.
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<strong>Biotinidase deficiency in juvenile multiple carboxylase deficiency. (Letter)</strong>
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Lancet 322: 398 only, 1983. Note: Originally Volume 2.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6135890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6135890</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6135890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(83)90364-1" target="_blank">Full Text</a>]
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<a id="40" class="mim-anchor"></a>
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<a id="Thuy1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<strong>Multiple carboxylase deficiency due to deficiency of biotinidase.</strong>
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J. Neurogenet. 3: 357-363, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3783319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3783319</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3783319" 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/10.3109/01677068609106859" target="_blank">Full Text</a>]
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</p>
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<a id="41" class="mim-anchor"></a>
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<a id="Tokatli1992" class="mim-anchor"></a>
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<p class="mim-text-font">
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Tokatli, A., Coskun, T., Ozalp, I., Gunay, M.
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<strong>The major presenting symptom in a biotinidase-deficient patient: laryngeal stridor.</strong>
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J. Inherit. Metab. Dis. 15: 281-282, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1527996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1527996</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1527996" 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/BF01799644" target="_blank">Full Text</a>]
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<a id="42" class="mim-anchor"></a>
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<a id="Wallace1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wallace, S. J.
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<strong>Biotinidase deficiency: presymptomatic treatment.</strong>
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Arch. Dis. Child. 60: 574-575, 1985.
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[<a href="https://doi.org/10.1136/adc.60.6.574" target="_blank">Full Text</a>]
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<a id="43" class="mim-anchor"></a>
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<a id="Wastell1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wastell, H. J., Bartlett, K., Dale, G., Shein, A.
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<strong>Biotinidase deficiency: a survey of 10 cases.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3196050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3196050</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3196050" 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/10.1136/adc.63.10.1244" target="_blank">Full Text</a>]
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<a id="44" class="mim-anchor"></a>
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<a id="Weissbecker1991" class="mim-anchor"></a>
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<div class="">
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Weissbecker, K. A., Nance, W. E., Eaves, L. J., Piussan, C., Wolf, B.
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<strong>Statistical approaches for the detection of heterozygotes for biotinidase deficiency.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1877614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1877614</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1877614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320390404" target="_blank">Full Text</a>]
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<li>
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<a id="45" class="mim-anchor"></a>
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<a id="Wolf1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wolf, B., Grier, R. E., Heard, G. S.
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<strong>Hearing loss in biotinidase deficiency. (Letter)</strong>
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Lancet 322: 1365-1366, 1983. Note: Originally Volume 2.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6139700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6139700</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6139700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<li>
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<a id="46" class="mim-anchor"></a>
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<a id="Wolf1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wolf, B., Grier, R. E., Parker, W. D., Jr., Goodman, S. I., Allen, R. J.
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<strong>Deficient biotinidase activity in late-onset multiple carboxylase deficiency. (Letter)</strong>
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New Eng. J. Med. 308: 161, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6848914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6848914</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6848914" 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/NEJM198301203080321" target="_blank">Full Text</a>]
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<a id="47" class="mim-anchor"></a>
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<a id="Wolf1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wolf, B., Grier, R. E., Secor McVoy, J. R., Heard, G. S.
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<strong>Biotinidase deficiency: a novel vitamin recycling defect.</strong>
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J. Inherit. Metab. Dis. 8 (suppl. 1): 53-58, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3930841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3930841</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3930841" 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/BF01800660" target="_blank">Full Text</a>]
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<a id="48" class="mim-anchor"></a>
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<a id="Wolf1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wolf, B., Heard, G. S., Jefferson, L. G., Proud, V. K., Nance, W. E., Weissbecker, K. A.
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<strong>Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.</strong>
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New Eng. J. Med. 313: 16-19, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4000223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4000223</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4000223" 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/NEJM198507043130104" target="_blank">Full Text</a>]
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Wolf, B., Heard, G. S., Weissbecker, K. A., Secor McVoy, J. R., Grier, R. E., Leshner, R. T.
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<strong>Biotinidase deficiency: initial clinical features and rapid diagnosis.</strong>
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Ann. Neurol. 18: 614-617, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4073853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4073853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4073853" 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/ana.410180517" target="_blank">Full Text</a>]
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Wolf, B., Norrgard, K., Pomponio, R. J., Mock, D. M., McVoy, J. R. S., Fleischhauer, K., Shapiro, S., Blitzer, M. G., Hymes, J.
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<strong>Profound biotinidase deficiency in two asymptomatic adults.</strong>
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Am. J. Med. Genet. 73: 5-9, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9375914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9375914</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9375914" 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/(sici)1096-8628(19971128)73:1<5::aid-ajmg2>3.0.co;2-u" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 05/24/2023
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Hilary J. Vernon - updated : 08/06/2020<br>Cassandra L. Kniffin - updated : 9/15/2009<br>Cassandra L. Kniffin - reorganized : 11/29/2004<br>Cassandra L. Kniffin - updated : 11/11/2004<br>Victor A. McKusick - updated : 11/29/2001<br>Michael B. Petersen - updated : 10/11/2001<br>Ada Hamosh - updated : 5/22/2000<br>Victor A. McKusick - updated : 9/8/1999<br>Victor A. McKusick - updated : 10/14/1998<br>Victor A. McKusick - updated : 6/12/1998<br>Victor A. McKusick - updated : 2/13/1998<br>Victor A. McKusick - updated : 12/1/1997<br>Victor A. McKusick - updated : 6/23/1997<br>Victor A. McKusick - updated : 5/19/1997<br>Moyra Smith - updated : 11/8/1996
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Victor A. McKusick : 6/4/1986
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alopez : 05/14/2024
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carol : 05/24/2023<br>carol : 08/06/2020<br>carol : 07/16/2020<br>carol : 04/22/2019<br>carol : 09/09/2016<br>carol : 08/14/2015<br>carol : 8/13/2015<br>alopez : 11/27/2012<br>wwang : 9/23/2009<br>ckniffin : 9/15/2009<br>terry : 4/9/2009<br>terry : 4/6/2005<br>carol : 11/29/2004<br>ckniffin : 11/11/2004<br>carol : 3/17/2004<br>cwells : 11/6/2003<br>carol : 1/15/2002<br>mcapotos : 12/11/2001<br>terry : 11/29/2001<br>cwells : 10/29/2001<br>cwells : 10/12/2001<br>cwells : 10/11/2001<br>alopez : 6/1/2000<br>alopez : 6/1/2000<br>terry : 5/22/2000<br>jlewis : 9/21/1999<br>terry : 9/8/1999<br>terry : 6/17/1999<br>carol : 6/15/1999<br>carol : 10/20/1998<br>terry : 10/14/1998<br>terry : 7/31/1998<br>alopez : 6/16/1998<br>terry : 6/12/1998<br>terry : 6/4/1998<br>alopez : 5/15/1998<br>mark : 2/23/1998<br>terry : 2/13/1998<br>dholmes : 12/30/1997<br>mark : 12/8/1997<br>terry : 12/1/1997<br>terry : 6/23/1997<br>terry : 6/19/1997<br>mark : 5/19/1997<br>terry : 5/19/1997<br>mark : 11/8/1996<br>mark : 5/30/1996<br>terry : 5/29/1996<br>mimman : 2/8/1996<br>mark : 8/31/1995<br>carol : 9/30/1994<br>carol : 10/13/1992<br>carol : 7/20/1992<br>supermim : 3/17/1992<br>carol : 2/19/1992
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<strong>#</strong> 253260
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BIOTINIDASE DEFICIENCY
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BTD DEFICIENCY<br />
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MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET<br />
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MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET
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<strong>SNOMEDCT:</strong> 8808004;
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<strong>ICD10CM:</strong> D81.810;
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<strong>ORPHA:</strong> 79241;
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<strong>DO:</strong> 856;
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3p25.1
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Biotinidase deficiency
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253260
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Autosomal recessive
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3
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BTD
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609019
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<p>A number sign (#) is used with this entry because biotinidase deficiency, a form of multiple carboxylase deficiency, is caused by homozygous or compound heterozygous mutation in the BTD gene (609019) on chromosome 3p25.</p>
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<p>Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous and neurologic abnormalities. Symptoms result from the patient's inability to reutilize biotin, a necessary nutrient. Sweetman (1981) recognized that multiple carboxylase deficiency could be classified into early (see 253270) and late forms. The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. Sweetman (1981) proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively. </p><p>Some patients with biotinidase deficiency present in infancy (Baumgartner et al., 1985; Kalayci et al., 1994), and some individuals with this deficiency are asymptomatic (Wolf et al., 1997). </p>
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<p>Gompertz et al. (1971) reported a patient with biotin-responsive beta-methylcrotonylglycinuria who had a deficiency of 3-methylcrotonyl-CoA carboxylase (Gompertz et al., 1973). On restudy of this patient, Sweetman et al. (1977) found that the patient was severely ketoacidotic, responded both clinically and biochemically to biotin, and excreted tiglylglycine, a metabolite of isoleucine that is excreted by patients with propionic acidemia due to propionyl-CoA carboxylase deficiency (606054). The deficiency of 2 mitochondrial carboxylases, both containing biotin, suggested that the fundamental defect was either in the transport of biotin or in the holocarboxylase synthetase that attaches biotin covalently to both carboxylases. </p><p>Charles et al. (1979) reported a presumed case of biotinidase deficiency in a 10-month-old boy who presented with dermatitis, alopecia, severe hypotonia, and developmental regression. Urinary organic acid analysis showed high levels of 3-hydroxyisovaleric acid, beta-methylcrotonylglycine, and 3-hydroxypropionic acid. Activities of propionyl CoA-carboxylase, beta-methylcrotonyl CoA-carboxylase, and pyruvate carboxylase in cultured fibroblasts were normal. Treatment with oral biotin resulted in a dramatic clinical improvement, and the authors postulated a defect in biotin absorption or transport. Lehnert et al. (1979) described a 10-week-old girl with hypotonia, recurrent seizures, and 3-methylcrotonylglycine and 3-hydroxyisovaleric acid in the urine. She also had small, but pathologic amounts of urinary propionic acid and methylcitric acid, suggesting a defect in the metabolism of biotin. Clinically and metabolically, the child responded to biotin. Bartlett et al. (1980) reported a child with a combined deficiency of propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, and pyruvate carboxylase. Cultured fibroblasts responded to administration of biotin. The primary defect was thought to involve either biotin metabolism or its intracellular transport. </p><p>Sander et al. (1980) reported a family with biotin-responsive MCD. Affected children presented with a skin rash, infections, acute intermittent ataxia, and lactic acidosis. Postmortem examination of 1 patient showed atrophy of the superior vermis of the cerebellum, similar to that seen in chronic alcoholism. </p><p>Wolf et al. (1983) reported 3 children with late-onset multiple carboxylase deficiency from 2 unrelated families. All patients had almost undetectable levels of biotinidase, whereas all 3 parents tested had an intermediate level. Wolf et al. (1983) suggested that the defect in the late-onset form of the disorder may not reside in intestinal absorption of biotin as had been suggested (Munnich et al., 1981; Thoene et al., 1982), but rather in biotinidase. Thoene and Wolf (1983) suggested that juvenile MCD probably results from impaired generation of free biotin from biotinyl residues of dietary protein. They noted that affected children are born with presumably normal stores of free biotin, but become deficient once dependent on dietary protein-bound biotin. This mechanism explained the clinical variability of the disorder and the relative delay in onset of symptoms compared to the neonatal onset in holocarboxylase synthetase deficiency. </p><p>Gaudry et al. (1983) confirmed biotinidase deficiency in a patient with multiple carboxylase deficiency and showed that the deficiency is present also in liver. </p><p>Fischer et al. (1982) reported a patient with MCD and impaired immunoregulatory functions due to defective prostaglandin E (PGE) monocyte production. Both PGE deficiency and immunoregulatory dysfunction responded to biotin administration. The authors suggested that the PGE deficiency resulted from impaired activity of acetyl-CoA carboxylase, which produces malonyl-CoA required for prostaglandin synthesis. </p><p>Wolf et al. (1985) reviewed the clinical presentation of 31 children with late-onset multiple carboxylase deficiency due to biotinidase deficiency. Symptoms usually appeared by about 3 months of age with seizures as the most frequent initial symptom. Other main features included hypotonia, ataxia, hearing loss, optic atrophy, skin rash, and alopecia. Metabolic abnormalities included ketolactic acidosis and organic aciduria. If untreated, symptoms became progressively worse, resulting in coma and death. Treatment with massive doses of biotin reversed the symptoms of alopecia, skin rash, ataxia, and developmental delay. See review of Sweetman and Nyhan (1986). </p><p>Baumgartner et al. (1985) observed that clinical and biochemical consequences of severe biotin deficiency occur within 12 days of birth. In affected patients with BTD deficiency, they found normal intestinal absorption of biotin and urinary loss of biotin and biocytin. Suormala et al. (1985) also found normal intestinal biotin absorption and increased urinary excretion of free biotin compared to controls. They concluded that renal loss of biotin was one of the factors contributing to the high biotin requirements in patients with BTD deficiency. Oral biotin supplementation resulted in increased activity of biotin-dependent carboxylases as early as 45 minutes. </p><p>Wolf et al. (1985) reported 2 patients with biotinidase deficiency who were identified among 81,243 newborns screened in the first year of a statewide screening program in Virginia. Both probands had mild neurologic symptoms at 2 and 4 months, respectively, and the 2 older sibs of 1 proband had more severe neurologic abnormalities, cutaneous findings, and developmental delay. None of the affected children had acute metabolic decompensation. Wastell et al. (1988) studied 10 patients with biotinidase deficiency. Clinical findings at presentation varied, with dermatologic signs (dermatitis and alopecia), neurologic abnormalities (seizures, hypotonia, and ataxia), and recurrent infections being the most common features, although none of these occurred in every case. Treatment with biotin resulted in pronounced, rapid clinical and biochemical improvement, but some patients had residual neurologic damage: neurosensory hearing loss, visual pathway defects, ataxia, and mental retardation. </p><p>Taitz et al. (1983) reported sensorineural deafness and severe myopia associated with a progressive retinal pigment epithelium dysplasia in a child with biotinidase deficiency, despite normal intelligence and neuromotor function. Thuy et al. (1986) reported a patient who first presented at age 5 years and had already developed sensorineural abnormalities of the optic and auditory nerves. The abnormalities did not resolve with treatment. Schulz et al. (1988) described bilateral basal ganglia calcifications in a 29-month-old girl with biotinidase deficiency who presented with ataxia. </p><p>Laryngeal stridor was a striking feature in cases of biotinidase deficiency reported by Giardini et al. (1981), Dionisi-Vici et al. (1988), and Tokatli et al. (1992). The patient of Tokatli et al. (1992) was a 30-month-old girl admitted with acute spastic laryngitis. At the ages of 10, 18, and 29 months, she had developed a noisy breathing pattern diagnosed as bronchitis that persisted for several weeks despite antibiotic therapy. At age 23 months, she developed erythematous cutaneous lesions involving the entire body, followed by seborrheic dermatitis of the scalp and sudden-onset alopecia. Laboratory analysis showed lactic acidosis and increased serum and urinary alanine. Normalization of both the respiratory symptoms and the metabolic abnormalities occurred within 2 hours of starting biotin therapy. </p><p>Kalayci et al. (1994) described 2 patients with biotinidase deficiency who were diagnosed with infantile spasms at 1 month of age. They concluded that biotinidase deficiency may present early in the neonatal period without characteristic findings such as alopecia and seborrheic dermatitis. </p><p>Suormala et al. (1990) compared 13 infants with partial biotinidase deficiency, detected in neonatal screening in Switzerland, Germany, and Austria, with 4 patients with classic biotinidase deficiency. Residual enzyme activity was present in the 'partial' cases. </p><p>Wolf et al. (1997) reported 2 unrelated asymptomatic adults with biotinidase deficiency who were diagnosed only because their affected children were identified by newborn screening. One patient was a 32-year-old Caucasian man who had never had symptoms of the disorder and showed no physical or neurologic abnormalities. His diet was not unusually enriched with biotin-containing foods, he did not pursue a low-protein diet, and he did not take supplemental vitamins. His parents were consanguineous and he was related to his wife. The family of this man and his wife was of German ancestry and could be traced back to the 1750s to a common founding ancestor who lived in the same small rural community in northwestern Virginia where they lived. The second asymptomatic adult reported by Wolf et al. (1997) was a 36-year-old Caucasian woman who had had no symptoms of the disorder and no dietary restrictions or abnormalities. A 15-year-old daughter was also found to have profound biotinidase deficiency but no clinical symptoms of the disorder, with the possible exception of a skin rash that occurred a few months earlier, was described as 'hives,' and resolved spontaneously. The mother's parentage was French Canadian and consanguineous; her husband was of Northern Irish background and not known to be related to her. </p><p>From a review of the literature on biotinidase deficiency, Tankeu et al. (2023) reported clinical features of 1113 patients, 51.5% of whom were identified by newborn screening. Symptoms at clinical presentation were reported in 482 patients and included nervous system involvement (67.2%), dermatologic findings (53.7%), ophthalmologic findings (34.4%), audiologic abnormalities (26.9%), and respiratory symptoms (17.8%). Most patients had multisystem findings, although 9.3% of patients presented with isolated ophthalmologic findings. Twenty-nine of the patients were diagnosed with biotinidase deficiency at age 16 years or older, and 31% of this cohort had neurologic findings including gait abnormalities, muscle weakness, ataxia, and/or seizures. Brain MRI findings included diffuse T2-weighted hyperintense signals. Partial biotinidase deficiency was diagnosed in 384 individuals in the patient cohort, and the 2 most common symptoms were neurologic symptoms in 11.2% and skin problems in 9.6%. </p>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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<span class="mim-text-font">
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<p>Hart et al. (1992) studied the biochemical and immunologic characteristics of biotinidase in sera from 68 children with profound biotinidase deficiency (defined as less than 10% of mean normal activity) who had been identified symptomatically and by newborn screening. Patients could be classified into at least 9 distinct biochemical phenotypes, on the basis of the presence or absence of crossreacting material (CRM) to biotinidase, the number of isoelectric focusing isoforms, and the distribution frequency of the isoforms. No relationship was found between either the age at onset or the severity of symptoms and the isoform patterns or CRM status of the symptomatic children. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</h4>
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<span class="mim-text-font">
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<p>Suormala et al. (1990) suggested treatment with biotin for all patients with residual activities below 10%. </p><p>In a review of 1113 reported patients with biotinidase deficiency, Tankeu et al. (2023) found that treatment with biotin resulted in clinical improvement or stability in 89.2% of patients. Seven of 9 patients (77.8%) had improvement in MRI findings. Some clinical symptoms, such as ataxia or muscle weakness, were reversible after treatment, whereas others, such as hearing loss, optic atrophy (except in rare cases), and impaired intellectual disability, did not improve with treatment. </p>
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</span>
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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 class="mim-text-font">
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<p>In 10 of 25 patients with biotinidase deficiency, Pomponio et al. (1995) identified an allele with a 7-bp deletion and a 3-bp insertion in the BTD gene (609019.0001). In 37 symptomatic children (30 index cases and 7 sibs) with profound biotinidase deficiency, Pomponio et al. (1997) identified 21 mutations in the BTD gene. The 2 most common mutations were the del7/ins3 mutation and R538C (609019.0003); these 2 mutations were found in 31 of 60 alleles (52%), whereas the remainder of the alleles were accounted for by the 19 other unique mutations. </p><p>In 2 unrelated asymptomatic adults with biotinidase deficiency who were diagnosed because their children were identified by newborn screening, Wolf et al. (1997) identified 2 different homozygous mutations in the BTD gene (609019.0005; 609019.0006). Wolf et al. (1997) concluded that epigenetic factors may protect some enzyme-deficient individuals from developing symptoms. </p><p>Pomponio et al. (2000) identified homozygous and compound heterozygous mutations in the BTD gene (609019.0001; 609019.0009-609019.0011) in Turkish children with biotinidase deficiency identified both clinically and by newborn screening. </p><p>Carvalho et al. (2019) reported molecular and serum enzyme testing results in 14 Brazilian children with biotinidase deficiency who were identified by newborn screening. Nine novel mutations were identified, including 2 deletions and 7 missense mutations. Seven of the mutations were found in exon 4, which encodes the C terminus. Among the missense mutations that were identified in homozygous state, F361V (609019.0012) led to partial biotinidase deficiency in 2 unrelated patients, and A534V (609019.0013) led to profound biotinidase deficiency in 1 patient. The previously reported D444H mutation (609019.0005) was found in compound heterozygosity in 7 patients; 5 of the patients had partial biotinidase deficiency, including one with compound heterozygosity for A534V and one with compound heterozygosity for F361V, and 2 of the patients had possible partial biotinidase deficiency. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Sivri et al. (2007) reported 20 Turkish patients with biotinidase deficiency. All except 1 were born of consanguineous parents. Variable hearing loss was present in 11 (55%) children. There were no significant differences in mean age of onset of symptoms, age of diagnosis, or time from onset to diagnosis between those with hearing loss and those with normal hearing. However, all symptomatic children with hearing loss were homozygous for null mutations in the BTD gene, whereas symptomatic children without hearing loss were all homozygous for missense mutations resulting in some residual protein function. Most notably, 3 symptom-free children, who had been ascertained and treated soon after birth because an older sib was affected, had normal hearing despite being homozygous for a null mutation. Combined with previous data, Sivri et al. (2007) concluded that homozygosity or compound heterozygosity for null mutations increases the risk that a symptomatic patient with biotinidase deficiency will have hearing loss, and noted that early treatment is beneficial. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p><strong><em>Newborn Screening</em></strong></p><p>
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Newborn screening for biotinidase deficiency identifies children with profound biotinidase deficiency (less than 10% of mean normal serum activity) and those with partial biotinidase deficiency (10 to 30% of mean normal serum activity). Children with partial biotinidase deficiency who are not treated with biotin do not exhibit symptoms unless they are stressed by prolonged infection (Swango et al., 1998). Wolf et al. (1985) described a simple, rapid, semiquantitative colorimetric method that could be done on whole blood spotted on filter paper as for PKU (261600) testing. </p><p>In northeastern Italy, Burlina et al. (1988) incorporated screening of biotinidase deficiency into a neonatal mass screening program. During a 6-month period, 1 affected infant was identified among 24,300 newborns, which the authors noted was as common as other well-known metabolic disorders for which mass screening was available. </p><p>On the basis of the screening of 163,000 newborn filter-paper blood samples for serum biotinidase deficiency, Dunkel et al. (1989) identified 3 with complete deficiency, representing an incidence of 18.4 cases per million live births, and 12 with partial deficiency. The complete deficiency cases represented homozygotes and the partial deficiency cases heterozygotes. The number of heterozygotes found by screening was much less than predicted, probably because the screening test detected only outliers. Biotinidase deficiency was found to be more common in French Canadians than in other ethnic groups in Quebec; however, no evidence of regional clustering or founder effect was detected. </p><p>Weissbecker et al. (1991) explored 3 statistical methods for identifying heterozygotes on the basis of serum biotinidase activity. By the preferred method, frequency of heterozygotes in an adult French population was estimated to be 0.012, which was similar to that estimated from the results of neonatal screening. </p><p>Kennedy et al. (1989) reported the results of a neonatal screening program for biotinidase deficiency in Scotland. Of 102,393 infants screened from 1985 to 1987, no positive cases were found. Minns and Kirk (1994) reported that, after discontinuation of the pilot study, 3 cases of biotinidase deficiency had been diagnosed in Scotland. </p><p>Norrgard et al. (1999) compared the mutations in a group of 59 children with profound biotinidase deficiency who were identified by newborn screening in the United States with those in 33 children ascertained by exhibiting symptoms. Of the 40 total mutations identified among the 2 populations, 4 mutations comprised 59% of the disease alleles studied. Two of these mutations occurred in both populations, but in the symptomatic group at a significantly greater frequency. The other 2 common mutations occurred only in the newborn screening group. Because 2 common mutations did not occur in the symptomatic population, Norrgard et al. (1999) considered it possible that individuals with these mutations either developed mild or no symptoms if left untreated. However, biotin treatment was still recommended. </p><p>Hymes et al. (2001) reported that 61 mutations in 3 of the 4 exons of the BTD gene and 1 mutation in an intron had been described as the cause of profound BTD deficiency. Two mutations, del7/ins3 and R538C, were present in 52% or 31 of 60 alleles found in symptomatic patients. Three other mutations accounted for 52% of alleles detected by newborn screening in the United States. </p><p>Muhl et al. (2001) identified 21 patients with profound and 13 unrelated patients with partial biotinidase deficiency from 30 unrelated families during a 12-year nationwide newborn screening in nearly 1 million newborns in Austria. By DGGE analysis and sequencing, they detected 59 of the 60 (98%) expected mutant alleles. A total of 13 different mutations were identified, with 4 common mutations comprising 78% of the BTD alleles. Of 13 children with partial biotinidase deficiency, the D444H mutation (609019.0005) was found in 12, usually with a mutation causing profound deficiency in the other allele. Only 2 patients homozygous for a frameshift mutation had no measurable residual enzyme activity, and both patients developed clinical symptoms before biotin supplementation. The authors concluded that mutation analysis could not predict whether or not an untreated patient will develop symptoms; however, they found it essential to differentiate biochemically between patients with lower or higher than 1% residual biotinidase activity. </p><p>Among 1,066,888 Brazilian newborns screened between June 2013 and December 2017, Carvalho et al. (2019) reported that 119 were identified as biotinidase-deficient; enzyme activity was less than 30% in 84 and in the borderline range in 35. </p>
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</span>
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<div>
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</div>
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</div>
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<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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Greter et al. (1985); Heard et al. (1986); Wallace (1985); Wolf et
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al. (1983); Wolf et al. (1985)
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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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Bartlett, K., Ng, H., Leonard, J. V.
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<strong>A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxylisovaleric aciduria.</strong>
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Clin. Chim. Acta 100: 183-186, 1980.
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[PubMed: 6766095]
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[Full Text: https://doi.org/10.1016/0009-8981(80)90081-9]
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Baumgartner, E. R., Suormala, T., Wick, H., Bausch, J., Bonjour, J.-P.
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<strong>Biotinidase deficiency: factors responsible for the increased biotin requirement.</strong>
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J. Inherit. Metab. Dis. 8 (suppl. 1): 59-64, 1985.
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Burlina, A. B., Sherwood, W. G., Marchioro, M. V., Dalla Bernardina, B., Gaburro, D.
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<strong>Neonatal screening for biotinidase deficiency in north eastern Italy.</strong>
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Europ. J. Pediat. 147: 317-318, 1988.
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<p class="mim-text-font">
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Carvalho, N. O., del Castillo, D. M., Januario, J. N., Starling, A. L. P., Arantes, R. R., Norton, R. C., Viana, M. B.
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<strong>Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.</strong>
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Am. J. Med. Genet. 179A: 978-982, 2019.
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[Full Text: https://doi.org/10.1002/ajmg.a.61137]
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<p class="mim-text-font">
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Charles, B. M., Hosking, G., Green, A., Pollitt, R., Bartlett, K., Taitz, L. S.
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<strong>Biotin-responsive alopecia and developmental regression.</strong>
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Lancet 314: 118-120, 1979. Note: Originally Volume 2.
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[PubMed: 88555]
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[Full Text: https://doi.org/10.1016/s0140-6736(79)90003-5]
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Dionisi-Vici, C., Bachmann, C., Graziani, M. C., Sabetta, G.
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<strong>Laryngeal stridor as a leading symptom in a biotinidase-deficient patient.</strong>
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J. Inherit. Metab. Dis. 11: 312-313, 1988.
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[PubMed: 3148078]
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[Full Text: https://doi.org/10.1007/BF01800381]
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<li>
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<p class="mim-text-font">
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Dunkel, G., Scriver, C. R., Clow, C. L., Melancon, S., Lemieux, B., Grenier, A., Laberge, C.
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<strong>Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn.</strong>
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J. Inherit. Metab. Dis. 12: 131-138, 1989.
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[PubMed: 2502673]
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[Full Text: https://doi.org/10.1007/BF01800715]
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Fischer, A., Munnich, A., Saudubray, J. M., Mamas, S., Coude, F. X., Charpentier, C., Dray, F., Frezal, J., Griscelli, C.
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<strong>Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency.</strong>
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J. Clin. Immun. 2: 35-38, 1982.
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[PubMed: 6212592]
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[Full Text: https://doi.org/10.1007/BF00915976]
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<p class="mim-text-font">
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Gaudry, M., Munnich, A., Saudubray, J. M., Ogier, H., Mitchell, G., Marsac, C., Causse, M., Marquet, A., Frezal, J.
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<strong>Deficient liver biotinidase activity in multiple carboxylase deficiency. (Letter)</strong>
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Lancet 322: 397 only, 1983. Note: Originally Volume 2.
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[PubMed: 6135889]
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[Full Text: https://doi.org/10.1016/s0140-6736(83)90363-x]
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</p>
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<p class="mim-text-font">
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Giardini, O., D'Eufemia, P., Cantani, A., Ruberto, U., Sabetta, G., Castro, M., Cardi, E.
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<strong>Congenital lactic acidosis associated with laryngeal stridor: report of 2 cases.</strong>
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Riv. Ital. Pediat. 7: 139-142, 1981.
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Gompertz, D., Draffan, G. H., Watts, J. L., Hull, D.
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<strong>Biotin-responsive beta-methylcrotonylglycinuria.</strong>
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Lancet 298: 22-24, 1971. Note: Originally Volume 2.
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[PubMed: 4103667]
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[Full Text: https://doi.org/10.1016/s0140-6736(71)90009-2]
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<p class="mim-text-font">
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Gompertz, D., Goodey, P. A., Bartlett, K.
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<strong>Evidence for the enzymic defect in beta-methylcrotonylglycinuria.</strong>
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FEBS Lett. 32: 13-14, 1973.
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[PubMed: 4715674]
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[Full Text: https://doi.org/10.1016/0014-5793(73)80723-9]
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Greter, J., Holme, E., Lindstedt, S., Koivikko, M.
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<strong>Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency.</strong>
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J. Inherit. Metab. Dis. 8: 103-104, 1985.
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[PubMed: 3930850]
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[Full Text: https://doi.org/10.1007/BF01811479]
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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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Hart, P. S., Hymes, J., Wolf, B.
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<strong>Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency.</strong>
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Am. J. Hum. Genet. 50: 126-136, 1992.
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[PubMed: 1729884]
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</p>
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<li>
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<p class="mim-text-font">
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Heard, G. S., Wolf, B., Jefferson, L. G., Weissbecker, K. A., Nance, W. E., Secor McVoy, J. R., Napolitano, A., Mitchell, P. L., Lambert, F. W., Linyear, A. S.
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<strong>Neonatal screening for biotinidase deficiency: results of a 1-year pilot study.</strong>
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J. Pediat. 108: 40-46, 1986.
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[PubMed: 3944695]
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[Full Text: https://doi.org/10.1016/s0022-3476(86)80766-1]
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</p>
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<li>
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<p class="mim-text-font">
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Hymes, J., Stanley, C. M., Wolf, B.
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<strong>Mutations in BTD causing biotinidase deficiency.</strong>
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Hum. Mutat. 18: 375-381, 2001.
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[PubMed: 11668630]
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[Full Text: https://doi.org/10.1002/humu.1208]
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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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Kalayci, O., Coskun, T., Tokatli, A., Demir, E., Erdem, G., Gungor, C., Yukselen, A., Ozalp, I.
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<strong>Infantile spasms as the initial symptom of biotinidase deficiency.</strong>
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J. Pediat. 124: 103-104, 1994.
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[PubMed: 8283357]
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[Full Text: https://doi.org/10.1016/s0022-3476(94)70263-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kennedy, R., Girdwood, R. W. A., King, M. D.
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<strong>Neonatal screening for biotinidase deficiency: a pilot study in Scotland.</strong>
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J. Inherit. Metab. Dis. 12: 344-345, 1989.
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[PubMed: 2515386]
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 05/24/2023<br>Hilary J. Vernon - updated : 08/06/2020<br>Cassandra L. Kniffin - updated : 9/15/2009<br>Cassandra L. Kniffin - reorganized : 11/29/2004<br>Cassandra L. Kniffin - updated : 11/11/2004<br>Victor A. McKusick - updated : 11/29/2001<br>Michael B. Petersen - updated : 10/11/2001<br>Ada Hamosh - updated : 5/22/2000<br>Victor A. McKusick - updated : 9/8/1999<br>Victor A. McKusick - updated : 10/14/1998<br>Victor A. McKusick - updated : 6/12/1998<br>Victor A. McKusick - updated : 2/13/1998<br>Victor A. McKusick - updated : 12/1/1997<br>Victor A. McKusick - updated : 6/23/1997<br>Victor A. McKusick - updated : 5/19/1997<br>Moyra Smith - updated : 11/8/1996
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Victor A. McKusick : 6/4/1986
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alopez : 05/14/2024<br>carol : 05/24/2023<br>carol : 08/06/2020<br>carol : 07/16/2020<br>carol : 04/22/2019<br>carol : 09/09/2016<br>carol : 08/14/2015<br>carol : 8/13/2015<br>alopez : 11/27/2012<br>wwang : 9/23/2009<br>ckniffin : 9/15/2009<br>terry : 4/9/2009<br>terry : 4/6/2005<br>carol : 11/29/2004<br>ckniffin : 11/11/2004<br>carol : 3/17/2004<br>cwells : 11/6/2003<br>carol : 1/15/2002<br>mcapotos : 12/11/2001<br>terry : 11/29/2001<br>cwells : 10/29/2001<br>cwells : 10/12/2001<br>cwells : 10/11/2001<br>alopez : 6/1/2000<br>alopez : 6/1/2000<br>terry : 5/22/2000<br>jlewis : 9/21/1999<br>terry : 9/8/1999<br>terry : 6/17/1999<br>carol : 6/15/1999<br>carol : 10/20/1998<br>terry : 10/14/1998<br>terry : 7/31/1998<br>alopez : 6/16/1998<br>terry : 6/12/1998<br>terry : 6/4/1998<br>alopez : 5/15/1998<br>mark : 2/23/1998<br>terry : 2/13/1998<br>dholmes : 12/30/1997<br>mark : 12/8/1997<br>terry : 12/1/1997<br>terry : 6/23/1997<br>terry : 6/19/1997<br>mark : 5/19/1997<br>terry : 5/19/1997<br>mark : 11/8/1996<br>mark : 5/30/1996<br>terry : 5/29/1996<br>mimman : 2/8/1996<br>mark : 8/31/1995<br>carol : 9/30/1994<br>carol : 10/13/1992<br>carol : 7/20/1992<br>supermim : 3/17/1992<br>carol : 2/19/1992
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