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- #231670 - GLUTARIC ACIDEMIA I; GA1
- OMIM
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<span class="h4">#231670</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/231670"><strong>Clinical Synopsis</strong></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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<div><a href="https://clinicaltrials.gov/search?cond=GLUTARIC ACIDEMIA I" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK546575/" 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 class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0111254" 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>
<div><a href="http://www.informatics.jax.org/disease/231670" 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>
<div><a href="https://wormbase.org/resources/disease/DOID:0111254" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:231670" 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>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 360416003<br />
<strong>ICD10CM:</strong> E72.3<br />
<strong>ORPHA:</strong> 25<br />
<strong>DO:</strong> 0111254<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
231670
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
GLUTARIC ACIDEMIA I; GA1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
GLUTARIC ACIDURIA I<br />
GA I<br />
GLUTARYL-CoA DEHYDROGENASE DEFICIENCY
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/342?start=-3&limit=10&highlight=342">
19p13.13
</a>
</span>
</td>
<td>
<span class="mim-font">
Glutaricaciduria, type I
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/231670"> 231670 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
GCDH
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608801"> 608801 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/231670" 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>
&nbsp;
<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/231670" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/231670" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
</span>
</div>
</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> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dystonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15802004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15802004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013421</a>, <a href="https://bioportal.bioontology.org/search?q=C0393593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span><br /> -
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 /> -
Rigidity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16046003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16046003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700109</a>, <a href="https://bioportal.bioontology.org/search?q=C0026837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span><br /> -
Choreoathetosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43105007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43105007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085583</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001266</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001266</a>]</span><br /> -
Opisthotonus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8652009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8652009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002179" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002179</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002179" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002179</a>]</span><br /> -
Seizures (less common) <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 /> -
Infantile encephalopathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856408&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856408</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007105" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007105</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007105" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007105</a>]</span><br /> -
Spastic diplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/281411007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">281411007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G80.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G80.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023882&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023882</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001264" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001264</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001264" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001264</a>]</span><br /> -
Frontotemporal atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150328&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150328</a>]</span><br /> -
Dilation of lateral ventricles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856409&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856409</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006956" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006956</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006956" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006956</a>]</span><br /> -
Widening of cortical sulci <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856410&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856410</a>]</span><br /> -
Delayed myelination <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/135810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">135810007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1277241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1277241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012448</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012448</a>]</span><br /> -
Symmetrical progressive demyelination <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856411</a>]</span><br /> -
Hypodensity of lenticular nuclei <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856412&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856412</a>]</span><br /> -
Hypodensity of caudate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856413&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856413</a>]</span><br /> -
Striatal necrosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150329</a>]</span><br />
</span>
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<div>
<span class="h5 mim-font">
<strong> METABOLIC FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Metabolic acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59455009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59455009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220981</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span><br />
</span>
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<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Glutaricaciduria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28987007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28987007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E72.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E72.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268594&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268594</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003150</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003150</a>]</span><br /> -
Glutaryl-CoA dehydrogenase deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/360416003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">360416003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E72.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E72.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268595&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268595</a>]</span><br /> -
Ketonemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/213281004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">213281004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235430</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410175</a>]</span><br /> -
Ketonuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36815008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36815008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274783007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274783007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R82.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R82.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162275&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162275</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002919</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002919</a>]</span><br /> -
Hypoglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237630007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237630007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271327008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271327008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302866003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302866003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179458001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179458001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020615</a>, <a href="https://bioportal.bioontology.org/search?q=C5767385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5767385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span><br />
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<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
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- Variable clinical presentation ranging from acute onset to normal adult<br /> -
Prevalent in Old Order Amish of Lancaster County, Pennsylvania and Saulteaux/Ojibway Indians of Canada<br /> -
Onset of illness often associated with acute infection<br /> -
Worldwide frequency of 1 in 100,000 infants<br />
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<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
- Caused by mutation in the glutaryl-CoA dehydrogenase gene (GCDH, <a href="/entry/608801#0001">608801.0001</a>)<br />
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<p>A number sign (#) is used with this entry because glutaric acidemia I (GA1) is caused by homozygous or compound heterozygous mutation in the gene encoding glutaryl-CoA dehydrogenase (GCDH; <a href="/entry/608801">608801</a>) on chromosome 19p13.</p>
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<p>Glutaric acidemia I is an autosomal recessive metabolic disorder characterized by gliosis and neuronal loss in the basal ganglia and a progressive movement disorder that usually begins during the first year of life (<a href="#11" class="mim-tip-reference" title="Goodman, S. I., Kratz, L. E., DiGiulio, K. A., Biery, B. J., Goodman, K. E., Isaya, G., Frerman, F. E. &lt;strong&gt;Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.&lt;/strong&gt; Hum. Molec. Genet. 4: 1493-1498, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8541831/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8541831&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/4.9.1493&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8541831">Goodman et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8541831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Hedlund, G. L., Longo, N., Pasquali, M. &lt;strong&gt;Glutaric acidemia type 1.&lt;/strong&gt; Am. J. Med. Genet. 142C: 86-94, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16602100/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16602100&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16602100[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.c.30088&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16602100">Hedlund et al. (2006)</a> provided a detailed review of the clinical and biochemical aspects of glutaric acidemia type I. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16602100" 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="#13" class="mim-tip-reference" title="Goodman, S. I., Moe, P. G., Markey, S. P. &lt;strong&gt;Glutaric aciduria: a &#x27;new&#x27; inborn error of amino acid metabolism. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 26: 36A, 1974."None>Goodman et al. (1974)</a> described glutaric aciduria and acidemia in a brother and sister with a neurodegenerative disorder beginning at about 6 months of age and characterized by opisthotonos, dystonia, and athetoid posturing. The glutaric aciduria was increased by oral administration of L-lysine, which is metabolized through glutaryl-CoA, and was decreased by reduced protein intake. Metabolism of radioactive glutaryl-CoA was deficient in white cells, a result compatible with inherited deficiency of glutaryl-CoA dehydrogenase (<a href="#12" class="mim-tip-reference" title="Goodman, S. I., Markey, S. P., Moe, P. G., Miles, B. S., Teng, C. C. &lt;strong&gt;Glutaric aciduria; a &#x27;new&#x27; disorder of amino acid metabolism.&lt;/strong&gt; Biochem. Med. 12: 12-21, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1137568/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1137568&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0006-2944(75)90091-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1137568">Goodman et al., 1975</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1137568" 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="Brandt, N. J., Brandt, S., Christensen, E., Gregersen, N., Rasmussen, K. &lt;strong&gt;Glutaric aciduria in progressive choreo-athetosis.&lt;/strong&gt; Clin. Genet. 13: 77-80, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/624191/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;624191&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1978.tb04131.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="624191">Brandt et al. (1978)</a> described a 10-year-old girl with progressive dystonic cerebral palsy. The urine contained large amounts of glutaric acid. From a review of this and 4 cases reported earlier, the authors concluded that disorders in the metabolism of organic acids should be sought in patients with progressive dystonic palsy. Lysed leukocytes from their patient showed severe impairment in the ability to metabolize glutaryl-CoA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=624191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Amir, N., El-Peleg, O., Shalev, R. S., Christensen, E. &lt;strong&gt;Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features.&lt;/strong&gt; Neurology 37: 1654-1657, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3658174/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3658174&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.37.10.1654&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3658174">Amir et al. (1987)</a> described 2 pairs of sibs with this disorder. All had a unique pattern of frontotemporal atrophy on computerized tomography (CT). Remarkably, in both sib pairs, 1 child was asymptomatic. All 12 previously reported patients had a homogeneous phenotype presenting in infancy with debilitating dystonia and choreoathetosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3658174" 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 an affected infant with glutaric aciduria, <a href="#22" class="mim-tip-reference" title="Mandel, H., Braun, J., El-Peleg, O., Christensen, E., Berant, M. &lt;strong&gt;Glutaric aciduria type I: brain CT features and a diagnostic pitfall.&lt;/strong&gt; Neuroradiology 33: 75-78, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2027453/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2027453&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00593342&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2027453">Mandel et al. (1991)</a> described CT findings of dilatation of the insular cisterns, regression of the temporal lobes, with 'bat wings' dilatation of the Sylvian fissures and hypodensity of the lenticular nuclei. CT changes preceded the onset of symptoms by 3 months. Improvement in the temporal lobe atrophy was observed after a period of treatment, coincident with marked clinical improvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2027453" 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 14 children with type I glutaric aciduria from the Old Order Amish community in Lancaster County, Pennsylvania, <a href="#25" class="mim-tip-reference" title="Morton, D. H., Bennett, M. J., Seargeant, L. E., Nichter, C. A., Kelley, R. I. &lt;strong&gt;Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.&lt;/strong&gt; Am. J. Med. Genet. 41: 89-95, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1951469/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1951469&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320410122&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1951469">Morton et al. (1991)</a> noted a remarkably variable clinical picture ranging from acute infantile encephalopathy and sudden death to static extrapyramidal cerebral palsy. In 10 patients, the disorder was first manifest between 3 and 18 months during an acute infectious illness. Four of these children died in early childhood, also during acute illnesses. However, there had been little progression of the neurologic disorder after age 5 years in the surviving children, and intellect was usually preserved even in children with severe spastic paralysis. They suggested that restriction of dietary protein and limitation of protein catabolism, dehydration, and acidosis during illnesses may prevent the onset or progression of neurologic disease in Amish patients with this disorder. <a href="#25" class="mim-tip-reference" title="Morton, D. H., Bennett, M. J., Seargeant, L. E., Nichter, C. A., Kelley, R. I. &lt;strong&gt;Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.&lt;/strong&gt; Am. J. Med. Genet. 41: 89-95, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1951469/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1951469&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320410122&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1951469">Morton et al. (1991)</a> presented a pedigree chart tracing both parents of all except one case to John Lapp and his wife, who immigrated to the United States in the 1730s. The oldest patient was a 28-year-old man who was normal until age 3 months when, after a period of irritability and poor feeding on day 7 of a varicella infection, he experienced an acute, afebrile episode of tonic posturing and thereafter became flaccid and unresponsive. After recovery from the acute episode, which was diagnosed as varicella encephalitis, he was left with a residual spastic diplegia, partial bulbar palsy, and choreoathetosis. GA I was diagnosed based on a urinary glutaric acid level of 166 mg/g creatinine. Despite spastic diplegia and moderate choreoathetosis, he had normal intelligence and regularly worked in a carriage and harness repair shop. There had been no apparent progression of his neurologic disease since the single damaging illness at age 3 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1951469" 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="#20" class="mim-tip-reference" title="Kyllerman, M., Skjeldal, O. H., Lundberg, M., Holme, I., Jellum, E., von Dobeln, U., Fossen, A., Carlsson, G. &lt;strong&gt;Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations.&lt;/strong&gt; Mov. Disord. 9: 22-30, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8139602/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8139602&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mds.870090105&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8139602">Kyllerman et al. (1994)</a> reported 12 new patients, aged 9 months to 16 years, comprising all known patients with GA I in Sweden and Norway. Ten had a severe dystonic-dyskinetic disorder, 1 had a mild hyperkinetic disorder, and 1 was asymptomatic. Two children died in a state of hyperthermia. Carnitine deficiency and malnutrition developed in patients with severe dystonia and dysphagia, which necessitated replacement therapy and gastrostomy. A slowly progressive dyskinetic disorder developed in 1 subject despite adequate early dietary treatment. Macrocephaly was found in 3. Computed tomography and magnetic resonance investigations in 10 showed deep bitemporal spaces in 7. Neuropsychologic testing of 8 of 12 subjects demonstrated receptive language function to be superior to expressive language and motor function, although cognitive functions were less affected than motor functions. A review of 57 pooled cases demonstrated that a severe dystonic syndrome developed in 77% and a mild extrapyramidal syndrome in 10%, while 12% were asymptomatic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8139602" 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="Hoffmann, G. F., Bohles, H. J., Burlina, A., Duran, M., Herwig, J., Lehnert, W., Leonard, J. V., Muntau, A., Plecko-Starting, F. K., Superti-Furga, A., Trefz, F. K., Christensen, E. &lt;strong&gt;Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.&lt;/strong&gt; J. Inherit. Metab. Dis. 18: 173-176, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7564239/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7564239&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00711759&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7564239">Hoffmann et al. (1995)</a> presented the clinical findings in more than 21 patients with GCDH deficiency. Seventy-six percent of the patients presented with an acute encephalopathic crisis, mostly associated with an upper respiratory and/or gastrointestinal infection between the ages of 2 and 37 months. The metabolic symptoms, such as hypoglycemia and metabolic acidosis, were minimal. After recovery the children had lost most motor skills and functioned at a 1- to 2-month-old level. At that point, the very distinctive clinical picture of a severe dystonic-dyskinetic syndrome in alert-looking children with relatively well-preserved intellectual functions and a prominent forehead could be recognized. About one-fourth of the patients never suffered encephalopathic crisis but presented with subacute motor delay. These patients showed developmental delay from birth and a progressive dystonic 'cerebral palsy.' <a href="#17" class="mim-tip-reference" title="Hoffmann, G. F., Bohles, H. J., Burlina, A., Duran, M., Herwig, J., Lehnert, W., Leonard, J. V., Muntau, A., Plecko-Starting, F. K., Superti-Furga, A., Trefz, F. K., Christensen, E. &lt;strong&gt;Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.&lt;/strong&gt; J. Inherit. Metab. Dis. 18: 173-176, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7564239/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7564239&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00711759&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7564239">Hoffmann et al. (1995)</a> observed that, whereas in most patients with GCDH deficiency there is often remarkable discrepancy between the severe motor impairment and the normal or near-normal intellectual functions until late in the disease process, children who never develop normally are more likely to be impaired mentally. Forty-three percent of this series showed macrocephaly at birth and 67% showed macrocephaly in infancy. Profuse sweating was noted in 35%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7564239" 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="Merinero, B., Perez-Cerda, C., Font, L. M., Garcia, M. J., Aparico, M., Lorenzo, G., Martinez Pardo, M., Garzo, C., Martinez-Bermejo, A., Castroviejo, I. P., Christensen, E., Ugarte, M. &lt;strong&gt;Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency.&lt;/strong&gt; Neuropediatrics 26: 238-242, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8552212/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8552212&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2007-979763&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8552212">Merinero et al. (1995)</a> described 7 new patients with severe deficiency of glutaryl-CoA dehydrogenase in cultured skin fibroblasts, only 3 of which excreted high levels of glutaric acid in the urine. High levels of glutaric acid were seen in the spinal fluid of all these patients. The patients presented between 6 months and 2 years of age with either seizures or hypotonia and dystonia. All but 1 had severe impairment of psychomotor development and abnormalities on T2-weighted MRI, chiefly bilateral hyperdensities of basal ganglia, atrophy of the temporal lobe, or extensive white matter hypodensities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8552212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Bjugstad, K. B., Goodman, S. I., Freed, C. R. &lt;strong&gt;Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1.&lt;/strong&gt; J. Pediat. 137: 681-686, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11060535/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11060535&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1067/mpd.2000.108954&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11060535">Bjugstad et al. (2000)</a> performed a forward, stepwise, multiple regression analysis to find predictors for outcome in 115 previously described patients with glutaric acidemia type I. The analyses showed that in patients who did not have a precipitating illness before the first appearance of motor symptoms, the age at onset was significantly associated with the severity of motor impairments and overall clinical outcome. In patients who had a precipitating illness, the age at onset did not predict the outcome. In both groups of patients, basal ganglia degeneration, enlargement of spaces containing cerebrospinal fluid, and white matter abnormalities were indicative of a poorer prognosis. Treatment given after the appearance of symptoms was not associated with a better clinical outcome or fewer motor deficits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11060535" 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 discussion of the natural history of GA I, <a href="#28" class="mim-tip-reference" title="Strauss, K. A., Puffenberger, E. G., Robinson, D. L., Morton, D. H. &lt;strong&gt;Type I glutaric aciduria, part 1: natural history of 77 patients.&lt;/strong&gt; Am. J. Med. Genet. 121C: 38-52, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12888985/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12888985&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.c.20007&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12888985">Strauss et al. (2003)</a> commented that micrencephalic macrocephaly is a distinctive radiologic feature of GA I. In most neonates, an enlarged head circumference is the only presenting sign of the disorder. The authors pointed to radiologic signs of large fluid collections in the middle cranial fossae. Veins could be seen stretching tenuously across this space, where they are subject to distortion and rupture. Acute subdural hemorrhage can occur after minor head trauma and in some instances is accompanied by retinal hemorrhages. Investigation of child abuse preceded a correct metabolic diagnosis in some non-Amish children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12888985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Strauss, K. A., Puffenberger, E. G., Robinson, D. L., Morton, D. H. &lt;strong&gt;Type I glutaric aciduria, part 1: natural history of 77 patients.&lt;/strong&gt; Am. J. Med. Genet. 121C: 38-52, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12888985/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12888985&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.c.20007&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12888985">Strauss et al. (2003)</a> summarized the clinical characteristics of 37 Amish and 40 non-Amish patients with GA I. Of the Amish patients, 17 were identified retrospectively and 20 were treated prospectively following diagnosis through screening of asymptomatic newborns. In all groups, basal ganglia degeneration was the major determinant of functional disability. The incidence of basal ganglia injury was 85% in non-Amish patients and 94% in retrospectively identified Amish children. In the other 20 Amish children, most of them diagnosed by neonatal screening, prospective management was accompanied by a basal ganglia injury rate of 35%. Acute striatal necrosis was the major cause of morbidity and mortality, and dystonia caused chronic medical and surgical complications. In older patients, exercise intolerance, hypoglycemia, and seizures often developed. <a href="#28" class="mim-tip-reference" title="Strauss, K. A., Puffenberger, E. G., Robinson, D. L., Morton, D. H. &lt;strong&gt;Type I glutaric aciduria, part 1: natural history of 77 patients.&lt;/strong&gt; Am. J. Med. Genet. 121C: 38-52, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12888985/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12888985&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.c.20007&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12888985">Strauss et al. (2003)</a> stated that fasting hypoglycemia probably has 2 distinct causes in GA I: nonketosis and hypoketosis. The former results from carnitine deficiency, which can also give rise to myopathy, cardiomyopathy, and Reye-like hepatocerebral crisis, and the latter can occur during intercurrent illness even in carnitine-supplemented children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12888985" 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="Bahr, O., Mader, I., Zschocke, J., Dichgans, J., Schulz, J. B. &lt;strong&gt;Adult onset glutaric aciduria type I presenting with a leukoencephalopathy.&lt;/strong&gt; Neurology 59: 1802-1804, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12473778/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12473778&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000036616.11962.3c&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12473778">Bahr et al. (2002)</a> reported a previously healthy 19-year-old woman who presented with recurrent headaches, oculomotor symptoms, and a severe leukoencephalopathy on MRI. Subsequent evaluation revealed increased urinary glutaric acid and compound heterozygosity for mutations in the GCDH gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12473778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Kulkens, S., Harting, I., Sauer, S., Zschocke, J., Hoffmann, G. F., Gruber, S., Bodamer, O. A., Kolker, S. &lt;strong&gt;Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency.&lt;/strong&gt; Neurology 64: 2142-2144, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15985591/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15985591&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.WNL.0000167428.12417.B2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15985591">Kulkens et al. (2005)</a> reported 2 unrelated patients who developed neurologic signs at ages 35 and 15 years, respectively. The first patient had onset of headaches at age 35, developed tremor of both arms at age 50, and had 6 tonic-clonic seizures between ages 54 and 62. At age 63, he developed ataxia, progressive dementia, and speech problems. The other patient developed headache, vertigo, and gait disturbance at age 15 years following an upper respiratory tract infection. Both patients had macrocephaly from birth and showed supratentorial leukoencephalopathy. Genetic analysis confirmed glutaryl-CoA dehydrogenase deficiency. Clinical treatment resulted in improvement and full recovery, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15985591" 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>Despite early diagnosis, one-third of Amish infants with glutaryl-CoA dehydrogenase deficiency developed striatal lesions that leave them permanently disabled. To better understand mechanisms of striatal degeneration, <a href="#27" class="mim-tip-reference" title="Strauss, K. A., Lazovic, J., Wintermark, M., Morton, D. H. &lt;strong&gt;Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.&lt;/strong&gt; Brain 130: 1905-1920, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17478444/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17478444&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awm058&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17478444">Strauss et al. (2007)</a> retrospectively studied imaging results from 25 Amish patients homozygous for the 1296C-T mutation in GCDH (<a href="/entry/608801#0002">608801.0002</a>). Asymptomatic infants had reduced glucose tracer uptake and increased blood volume throughout the gray matter, which may signify predisposition to brain injury. Striatal lesions developed in 9 children (36%): 3 had sudden motor regression during infancy, whereas 6 had insidious motor delay associated with striatal lesions of undetermined onset. Acute striatal necrosis consisted of 3 stages: (1) an acute stage within 24 hours of motor regression, characterized by cytotoxic edema within the basal ganglia, cerebral oligemia, and rapid transit of blood throughout the gray matter; (2) a subacute stage, 4 to 5 days after the onset of clinical symptoms, characterized by reduced striatal perfusion and glucose uptake, and supervening vasogenic edema; and (3) a chronic stage of striatal atrophy. <a href="#27" class="mim-tip-reference" title="Strauss, K. A., Lazovic, J., Wintermark, M., Morton, D. H. &lt;strong&gt;Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.&lt;/strong&gt; Brain 130: 1905-1920, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17478444/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17478444&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awm058&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17478444">Strauss et al. (2007)</a> suggested that intravenous fluid and dextrose therapy for illnesses during the first 2 years of life was the only intervention that was clearly neuroprotective in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17478444" 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="Marti-Masso, J. F., Ruiz-Martinez, J., Makarov, V., Lopez de Munain, A., Gorostidi, A., Bergareche, A., Yoon, S., Buxbaum, J. D., Paisan-Ruiz, C. &lt;strong&gt;Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.&lt;/strong&gt; Hum. Genet. 131: 435-442, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21912879/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21912879&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-011-1086-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21912879">Marti-Masso et al. (2012)</a> reported 2 adult Spanish sisters with onset in infancy of a severe progressive form of dystonia affecting the upper and lower limbs, face, neck, and trunk, and resulting in severe speech impairment and the inability to walk by the teenage years. Neither had macrocephaly, organomegaly, cognitive impairment, or acute encephalopathy in childhood. Whole-exome sequence analysis identified a homozygous mutation in the GCDH gene (V400M; <a href="/entry/608801#0008">608801.0008</a>), consistent with glutaric acidemia. Laboratory studies showed decreased long-chain acylcarnitines and high excretion of 3-hydroxyglutaric acid, but urinary glutaric acid excretion was normal. Brain imaging showed increased signals in the lenticular nuclei. The findings implicated mitochondrial fatty acid metabolism as an important pathway in the development of dystonia, and <a href="#23" class="mim-tip-reference" title="Marti-Masso, J. F., Ruiz-Martinez, J., Makarov, V., Lopez de Munain, A., Gorostidi, A., Bergareche, A., Yoon, S., Buxbaum, J. D., Paisan-Ruiz, C. &lt;strong&gt;Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.&lt;/strong&gt; Hum. Genet. 131: 435-442, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21912879/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21912879&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-011-1086-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21912879">Marti-Masso et al. (2012)</a> concluded that GCDH mutation analysis should be considered in the differential diagnosis of progressive forms of early-onset generalized dystonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21912879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Gurbuz, B. B., Yilmaz, D. Y., Coskun, T., Tokath, A., Dursun, A., Sivri, H. S. &lt;strong&gt;Glutaric aciduria type 1: genetic and phenotypic spectrum in 53 patients.&lt;/strong&gt; Europ. J. Med. Genet. 63: 104032, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32777384/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32777384&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2020.104032&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32777384">Gurbuz et al. (2020)</a> described 53 Turkish patients, aged 1 to 49 years, with glutaric acidemia type I. The patients had an average age of symptom onset of 1.36 years with a range of 0.08 to 12 years. Initial clinical findings in the symptomatic patients included seizures in 18, retardation in 18, hydrocephalus in 8, and subdural effusion in 2. There was not a significant association between the onset of disease and initial findings. Encephalopathic crisis and macrocephaly were detected in 32 and 33 patients, respectively. There was not a statistically significant association between the onset of disease and encephalopathic crisis or macrocephaly. Clinical outcomes of patients included severe motor/mental retardation (MMR) in 18, mild MMR in 12, mild dystonia with normal mental status in 1, and severe MMR with autism in 1. Six patients were asymptomatic sibs of an affected individual and were detected through family screening. Biochemical findings included elevated glutaric acid in 47 patients, decreased C0 acylcarnitine in 46, and increased C5DC acylcarnitine in 48. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32777384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#20" class="mim-tip-reference" title="Kyllerman, M., Skjeldal, O. H., Lundberg, M., Holme, I., Jellum, E., von Dobeln, U., Fossen, A., Carlsson, G. &lt;strong&gt;Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations.&lt;/strong&gt; Mov. Disord. 9: 22-30, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8139602/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8139602&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mds.870090105&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8139602">Kyllerman et al. (1994)</a> noted that glutaric aciduria may go undetected in patients with cerebral palsy and mental retardation. In patients suspected of having the disorder, repeated examinations of organic acids in the urine and enzyme assay may be necessary to confirm the diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8139602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Tortorelli, S., Hahn, S. H., Cowan, T. M., Brewster, T. G., Rinaldo, P., Matern, D. &lt;strong&gt;The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.&lt;/strong&gt; Molec. Genet. Metab. 84: 137-143, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15670719/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15670719&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2004.09.016&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15670719">Tortorelli et al. (2005)</a> found that the urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia I in patients with inconclusive biochemical findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15670719" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Boy, N., Mengler, K., Thimm, E., Schiergens, K. A., Marquardt, T., Weinhold, N., Marquardt, I., Das, A. M., Freisinger, P., Grunert, S. C., Vossbeck, J., Steinfeld, R., and 12 others. &lt;strong&gt;Newborn screening: a disease-changing intervention for glutaric aciduria type 1.&lt;/strong&gt; Ann. Neurol. 83: 970-979, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29665094/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29665094&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.25233&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29665094">Boy et al. (2018)</a> evaluated the clinical history in 94 individuals from Germany who were identified between 1999 and 2016 with GA1, including 87 patients who were identified by newborn screening, 4 patients missed by newborn screening, and 3 women identified with GA1 because of a positive newborn screen of their unaffected child. Overall, newborn screening with C5DC had an estimated sensitivity of 95.6%, but the sensitivity was lower for patients with a low excreter phenotype (84%). Available molecular genetic results were as follows: 35 patients were homozygous and 38 patients were compound heterozygous for mutations in the GCDH gene; in 2 patients with a high excreter phenotype and 1 patient with a low-excreter phenotype only 1 mutation in GCDH was found; and in 1 patient, 3 mutations in GCDH were identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29665094" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
<a href="#10" class="mim-tip-reference" title="Goodman, S. I., Gallegos, D. A., Pullin, C. J., Halpern, B., Truscott, R. J. W., Wise, G., Wilcken, B., Ryan, E. D., Whelan, D. T. &lt;strong&gt;Antenatal diagnosis of glutaric acidemia.&lt;/strong&gt; Am. J. Hum. Genet. 32: 695-699, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6893520/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6893520&lt;/a&gt;]" pmid="6893520">Goodman et al. (1980)</a> monitored 2 pregnancies at risk for glutaric acidemia type I. In 1 case in which the fetus was unaffected, glutaric acid was not detected in the amniotic fluid at amniocentesis (15 weeks) and the glutaryl-CoA dehydrogenase activity of cultured amniotic cells was normal. In the other case, there was a marked increase of glutaric acid in the amniotic fluid as well as a deficiency of glutaryl-CoA dehydrogenase in cultured amniotic cells. The pregnancy was terminated, and postmortem studies confirmed the diagnosis of glutaric acidemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6893520" 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="Christensen, E. &lt;strong&gt;Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: experience using first-trimester chorionic villus sampling.&lt;/strong&gt; Prenatal Diag. 14: 333-336, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8084854/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8084854&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/pd.1970140503&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8084854">Christensen (1994)</a> described experience with chorionic villus sampling for first-trimester diagnosis of this disorder. Among 16 pregnancies, 4 were predicted to represent an affected fetus; in 3 of the affected cases, GCDH activity was measured in both uncultured and cultured chorionic cells and the correct diagnosis was established by both measurements. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8084854" 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 id="clinicalManagement" class="mim-anchor"></a>
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<strong>Clinical Management</strong>
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<p><a href="#16" class="mim-tip-reference" title="Heringer, J., Boy, S. P. N., Ensenauer, R., Assmann, B., Zschocke, J., Harting, I., Lucke, T., Maier, E. M., Muhlhausen, C., Haege, G., Hoffmann, G. F., Burgard, P., Kolker, S. &lt;strong&gt;Use of guidelines improves the neurological outcome in glutaric aciduria type 1.&lt;/strong&gt; Ann. Neurol. 68: 743-752, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21031586/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21031586&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.22095&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21031586">Heringer et al. (2010)</a> summarized the guidelines published by <a href="#18" class="mim-tip-reference" title="Kolker, S., Christensen, E., Leonard, J. V., Greenberg, C. R., Burlina, A. B., Burlina, A. P., Dixon, M., Duran, M., Goodman, S. I., Koeller, D. M., Muller, E., Naughten, E. R., Neumaier-Probst, E., Okun, J. G., Kyllerman, M., Surtees, R. A., Wilcken, B., Hoffmann, G. F., Burgard, P. &lt;strong&gt;Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).&lt;/strong&gt; J. Inherit. Metab. Dis. 30: 5-22, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17203377/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17203377&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10545-006-0451-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17203377">Kolker et al. (2007)</a> for the management of glutaryl-CoA dehydrogenase deficiency. Recommendations included a lysine-restricted diet to reduce the accumulation of the neurotoxic metabolites glutaric acid, 3-hydroxyglutaric acid, and glutaryl-CoA deriving from the precursor amino acid lysine; the supplementation of carnitine to prevent secondary carnitine depletion, to facilitate production of the nontoxic C5DC, and to replenish the intracellular free coenzyme A pool; and the intermittent and stepwise intensification of metabolic treatment using a high-calorie, low- or no-protein emergency treatment protocol during putatively threatening episodes such as infectious disease to prevent striatal injury. <a href="#16" class="mim-tip-reference" title="Heringer, J., Boy, S. P. N., Ensenauer, R., Assmann, B., Zschocke, J., Harting, I., Lucke, T., Maier, E. M., Muhlhausen, C., Haege, G., Hoffmann, G. F., Burgard, P., Kolker, S. &lt;strong&gt;Use of guidelines improves the neurological outcome in glutaric aciduria type 1.&lt;/strong&gt; Ann. Neurol. 68: 743-752, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21031586/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21031586&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.22095&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21031586">Heringer et al. (2010)</a> assessed the outcome of 52 patients identified by a newborn screen in Germany from 1999 to 2009. Outcome was evaluated in relationship to therapy and therapy-independent parameters. According to following the guidelines of <a href="#18" class="mim-tip-reference" title="Kolker, S., Christensen, E., Leonard, J. V., Greenberg, C. R., Burlina, A. B., Burlina, A. P., Dixon, M., Duran, M., Goodman, S. I., Koeller, D. M., Muller, E., Naughten, E. R., Neumaier-Probst, E., Okun, J. G., Kyllerman, M., Surtees, R. A., Wilcken, B., Hoffmann, G. F., Burgard, P. &lt;strong&gt;Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).&lt;/strong&gt; J. Inherit. Metab. Dis. 30: 5-22, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17203377/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17203377&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10545-006-0451-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17203377">Kolker et al. (2007)</a>, <a href="#16" class="mim-tip-reference" title="Heringer, J., Boy, S. P. N., Ensenauer, R., Assmann, B., Zschocke, J., Harting, I., Lucke, T., Maier, E. M., Muhlhausen, C., Haege, G., Hoffmann, G. F., Burgard, P., Kolker, S. &lt;strong&gt;Use of guidelines improves the neurological outcome in glutaric aciduria type 1.&lt;/strong&gt; Ann. Neurol. 68: 743-752, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21031586/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21031586&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.22095&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21031586">Heringer et al. (2010)</a> found that outcome was best in glutaric aciduria-1 patients who were treated in full accordance with treatment recommendations (n = 37; 5% had movement disorder (MD)). Deviations from recommended basic metabolic treatment (low-lysine diet, carnitine) resulted in an intermediate outcome (n = 9; 44% MD), whereas disregard of emergency treatment recommendations was associated with a poor outcome (n = 6; 100% MD). Treatment regimens deviating from recommendations significantly increased the risk for movement disorder (OR, 35; 95% CI, 5.88-208.39) and acute encephalopathic crises (OR, 51.32; 95% CI, 2.65-993.49). Supervision by a metabolic center improved the outcome (18% vs 57% MD; OR, 6.17; 95% CI, 1.15-33.11), whereas migrational background and biochemical phenotype (high vs low excreter status) had no significant effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17203377+21031586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Strauss, K. A., Williams, K. B., Carson, V. J., Poskitt, L., Bowser, L. E., Young, M., Robinson, D. L., Hendrickson, C., Beiler, K., Taylor, C. M., Haas-Givler, B., Hailey, J., Chopko, S., Puffenberger, E. G., Brigatti, K. W., Miller, F., Morton, D. H. &lt;strong&gt;Glutaric acidemia type 1: treatment and outcome of 168 patients over three decades.&lt;/strong&gt; Molec. Genet. Metab. 131: 325-340, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33069577/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;33069577&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2020.09.007&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="33069577">Strauss et al. (2020)</a> reported clinical outcomes in 168 individuals with glutaric acidemia type I, stratified into 3 cohorts based on treatment. In cohort I, 60 patients (born between 2006-2019) were identified by newborn screening and treated prospectively with a lysine-free, arginine-enriched formula, enteral L-carnitine, and emergency intravenous infusions of dextrose, saline and L-carnitine during illness (anorexia, gastroenteritis, and/or signs of infectious illness lasting more than 1 to 2 days in children less than 24 months of age). Fifty-seven patients in cohort II (born between 1989-2018) were identified by newborn screening and treated with a protein-restricted diet and emergency intravenous infusions. Fifty-one patients in cohort III (born between 1973-2016) did not receive newborn screening or a special diet. The incidence of striatal injury in cohorts I, II, and III was 7%, 47%, and 90%, respectively. Adherence to metabolic formula and L-carnitine supplementation in cohort I declined to 12% and 32%, respectively, by age 7 years, which was associated with increased plasma lysine/arginine ratio and decreased plasma free and total carnitine, respectively. No neurologic injuries occurred after 19 months of age, and among children in cohort I who did not have neurologic injuries, growth, motor development, and cognitive function were normal. Of the 77 total patients who did have a brain injury, 18 were lost to follow-up, and of the remaining 59 patients, 14 died from complications of dystonia at a median age of 14.5 years. <a href="#29" class="mim-tip-reference" title="Strauss, K. A., Williams, K. B., Carson, V. J., Poskitt, L., Bowser, L. E., Young, M., Robinson, D. L., Hendrickson, C., Beiler, K., Taylor, C. M., Haas-Givler, B., Hailey, J., Chopko, S., Puffenberger, E. G., Brigatti, K. W., Miller, F., Morton, D. H. &lt;strong&gt;Glutaric acidemia type 1: treatment and outcome of 168 patients over three decades.&lt;/strong&gt; Molec. Genet. Metab. 131: 325-340, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33069577/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;33069577&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2020.09.007&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="33069577">Strauss et al. (2020)</a> concluded that neonatal diagnosis coupled with management with a lysine-free, arginine-rich formula and emergency IV infusions in the first 2 years of life is effective and safe. <a href="#29" class="mim-tip-reference" title="Strauss, K. A., Williams, K. B., Carson, V. J., Poskitt, L., Bowser, L. E., Young, M., Robinson, D. L., Hendrickson, C., Beiler, K., Taylor, C. M., Haas-Givler, B., Hailey, J., Chopko, S., Puffenberger, E. G., Brigatti, K. W., Miller, F., Morton, D. H. &lt;strong&gt;Glutaric acidemia type 1: treatment and outcome of 168 patients over three decades.&lt;/strong&gt; Molec. Genet. Metab. 131: 325-340, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33069577/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;33069577&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2020.09.007&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="33069577">Strauss et al. (2020)</a> did not make recommendations about cessation of dietary therapy with increasing age, stating that more research was necessary. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33069577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Boy, N., Mengler, K., Thimm, E., Schiergens, K. A., Marquardt, T., Weinhold, N., Marquardt, I., Das, A. M., Freisinger, P., Grunert, S. C., Vossbeck, J., Steinfeld, R., and 12 others. &lt;strong&gt;Newborn screening: a disease-changing intervention for glutaric aciduria type 1.&lt;/strong&gt; Ann. Neurol. 83: 970-979, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29665094/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29665094&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.25233&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29665094">Boy et al. (2018)</a> evaluated clinical treatment and outcomes in 94 individuals from Germany identified between 1999 and 2016 with glutaric acidemia type I, including 87 patients who were identified by newborn screening, 4 patients missed by newborn screening, and 3 women identified with GA1 because of a positive newborn screen of their unaffected child. Sixty-four patients had a high excreter phenotype and 21 patients had a low excreter phenotype. Fifty-six patients (64%) who were detected by newborn screen remained asymptomatic, 26 patients (30%) had major motor symptoms, and 5 patients (6%) had minor motor symptoms. Outcomes were assessed in association with adherence to maintenance and emergency therapy. Maintenance therapy included a low-lysine diet supplemented with a lysine-free, tryptophan-reduced, arginine-containing formula in patients up to 6 years of age, a protein-controlled diet for patients older than 6 years, and lifelong supplementation with carnitine. Emergency therapy included a carbohydrate-enriched, low- or no-protein protocol initiated during catabolic episodes (e.g., fever, vomiting). Among the patients who had presymptomatic initiation of treatment and adherence to both maintenance therapy and emergency treatment, 7% developed a movement disorder. Of the patients who did not have presymptomatic initiation of treatment, 100% had an acute onset of a movement disorder. Nonadherence to emergency treatment had the strongest impact on outcome, with patients usually developing a severe movement disorder. Patients who didn't follow recommendations for maintenance therapy mostly had increased risk for a mild insidious onset of dystonia. Kidney function was found to decline with age regardless of neurologic phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29665094" 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 id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Molecular Genetics</strong>
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<p>In a Navajo child with glutaric acidemia type I, <a href="#4" class="mim-tip-reference" title="Biery, B. J., Goodman, S. I. &lt;strong&gt;Mutation in glutaryl-CoA dehydrogenase (GCDH) in glutaric acidemia type I. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 51 (suppl.): A165, 1992."None>Biery and Goodman (1992)</a> and <a href="#11" class="mim-tip-reference" title="Goodman, S. I., Kratz, L. E., DiGiulio, K. A., Biery, B. J., Goodman, K. E., Isaya, G., Frerman, F. E. &lt;strong&gt;Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.&lt;/strong&gt; Hum. Molec. Genet. 4: 1493-1498, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8541831/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8541831&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/4.9.1493&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8541831">Goodman et al. (1995)</a> identified homozygosity for a mutation in the GCDH gene (<a href="/entry/608801#0001">608801.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8541831" 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 64 unrelated patients with glutaric acidemia type I, <a href="#5" class="mim-tip-reference" title="Biery, B. J., Stein, D. E., Morton, D. H., Goodman, S. I. &lt;strong&gt;Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.&lt;/strong&gt; Am. J. Hum. Genet. 59: 1006-1011, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8900227/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8900227&lt;/a&gt;]" pmid="8900227">Biery et al. (1996)</a> identified 12 mutations and several polymorphisms in 7 exons of the GCDH gene (see, e.g., <a href="/entry/608801#0007">608801.0007</a>-<a href="/entry/608801#0009">608801.0009</a>). Several mutations were found in more than one patient, but no one prevalent mutation was detected in the general population. However, a single mutation was found as the cause of glutaric acidemia in the Old Order Amish of Lancaster County, Pennsylvania (A421V; <a href="/entry/608801#0002">608801.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8900227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By direct sequencing of the GCDH gene in 53 Turkish patients with GA1 from 39 unrelated families, <a href="#14" class="mim-tip-reference" title="Gurbuz, B. B., Yilmaz, D. Y., Coskun, T., Tokath, A., Dursun, A., Sivri, H. S. &lt;strong&gt;Glutaric aciduria type 1: genetic and phenotypic spectrum in 53 patients.&lt;/strong&gt; Europ. J. Med. Genet. 63: 104032, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32777384/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32777384&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2020.104032&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32777384">Gurbuz et al. (2020)</a> identified mutations in 46 patients, 40 of whom had homozygous mutations. About 85% of the patients came from consanguineous families. Twenty different mutations, 7 of which were novel, were identified, including 17 missense, 2 deletions, and 1 nonsense. The most common mutations were R402W (<a href="/entry/608801#0004">608801.0004</a>), P248L, and L340F, with a frequency of 21.2%, 18.2%, and 12.1%, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32777384" 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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<div>
<a id="populationGenetics" class="mim-anchor"></a>
<h4 href="#mimPopulationGeneticsFold" id="mimPopulationGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Population Genetics</strong>
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<p>Morton et al. (<a href="#26" class="mim-tip-reference" title="Morton, H., Bennett, M., Nichter, C., Kelley, R. I. &lt;strong&gt;Glutaric aciduria type 1 of the Amish. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 45 (suppl.): A9, 1989."None>1989</a>, <a href="#25" class="mim-tip-reference" title="Morton, D. H., Bennett, M. J., Seargeant, L. E., Nichter, C. A., Kelley, R. I. &lt;strong&gt;Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.&lt;/strong&gt; Am. J. Med. Genet. 41: 89-95, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1951469/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1951469&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320410122&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1951469">1991</a>) described type I glutaric aciduria in 14 children from the Old Order Amish community in Lancaster County, Pennsylvania. The authors estimated a 10% carrier frequency for this disorder among the Lancaster County Old Order Amish. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1951469" 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 48 individuals with confirmed GCDH deficiency, <a href="#32" class="mim-tip-reference" title="Zschocke, J., Quak, E., Guldberg, P., Hoffmann, G. F. &lt;strong&gt;Mutation analysis in glutaric aciduria type I.&lt;/strong&gt; J. Med. Genet. 37: 177-181, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10699052/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10699052&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.37.3.177&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10699052">Zschocke et al. (2000)</a> identified a total of 38 different mutations. R402W (<a href="/entry/608801#0004">608801.0004</a>) was the most common mutation in Europeans, accounting for 40% of alleles in patients of German origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10699052" 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>Glutaric acidemia type I occurs in about 1 in 100,000 infants worldwide (<a href="#15" class="mim-tip-reference" title="Hedlund, G. L., Longo, N., Pasquali, M. &lt;strong&gt;Glutaric acidemia type 1.&lt;/strong&gt; Am. J. Med. Genet. 142C: 86-94, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16602100/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16602100&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16602100[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.c.30088&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16602100">Hedlund et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16602100" 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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<div>
<a id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>See Also:</strong>
</span>
</h4>
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<a href="#Bennett1986" class="mim-tip-reference" title="Bennett, M. J., Marlow, N., Pollitt, R. J., Wales, J. K. H. &lt;strong&gt;Glutaric aciduria type 1: biochemical investigations and postmortem findings.&lt;/strong&gt; Europ. J. Pediat. 145: 403-405, 1986.">Bennett et al. (1986)</a>; <a href="#Leibel1980" class="mim-tip-reference" title="Leibel, R. L., Shih, V. E., Goodman, S. I., Bauman, M. L., McCabe, E. R. B., Zwerdling, R. G., Bergman, I., Costello, C. &lt;strong&gt;Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis.&lt;/strong&gt; Neurology 30: 1163-1168, 1980.">Leibel et al. (1980)</a>; <a href="#Stutchfield1985" class="mim-tip-reference" title="Stutchfield, P., Edwards, M. A., Gray, R. G. F., Crawley, P., Green, A. &lt;strong&gt;Glutaric aciduria type I misdiagnosed as Leigh&#x27;s encephalopathy and cerebral palsy.&lt;/strong&gt; Dev. Med. Child Neurol. 27: 514-521, 1985.">Stutchfield et al.
(1985)</a>
</span>
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<div>
<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Amir1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Amir, N., El-Peleg, O., Shalev, R. S., Christensen, E.
<strong>Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features.</strong>
Neurology 37: 1654-1657, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3658174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3658174</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3658174" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.37.10.1654" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Bahr2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bahr, O., Mader, I., Zschocke, J., Dichgans, J., Schulz, J. B.
<strong>Adult onset glutaric aciduria type I presenting with a leukoencephalopathy.</strong>
Neurology 59: 1802-1804, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473778</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12473778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000036616.11962.3c" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Bennett1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bennett, M. J., Marlow, N., Pollitt, R. J., Wales, J. K. H.
<strong>Glutaric aciduria type 1: biochemical investigations and postmortem findings.</strong>
Europ. J. Pediat. 145: 403-405, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3792386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3792386</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3792386" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00439248" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Biery1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Biery, B. J., Goodman, S. I.
<strong>Mutation in glutaryl-CoA dehydrogenase (GCDH) in glutaric acidemia type I. (Abstract)</strong>
Am. J. Hum. Genet. 51 (suppl.): A165, 1992.
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Biery1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Biery, B. J., Stein, D. E., Morton, D. H., Goodman, S. I.
<strong>Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.</strong>
Am. J. Hum. Genet. 59: 1006-1011, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8900227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Bjugstad2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bjugstad, K. B., Goodman, S. I., Freed, C. R.
<strong>Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1.</strong>
J. Pediat. 137: 681-686, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11060535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11060535</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11060535" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1067/mpd.2000.108954" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Boy2018" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Boy, N., Mengler, K., Thimm, E., Schiergens, K. A., Marquardt, T., Weinhold, N., Marquardt, I., Das, A. M., Freisinger, P., Grunert, S. C., Vossbeck, J., Steinfeld, R., and 12 others.
<strong>Newborn screening: a disease-changing intervention for glutaric aciduria type 1.</strong>
Ann. Neurol. 83: 970-979, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29665094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29665094</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29665094" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ana.25233" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Brandt1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Brandt, N. J., Brandt, S., Christensen, E., Gregersen, N., Rasmussen, K.
<strong>Glutaric aciduria in progressive choreo-athetosis.</strong>
Clin. Genet. 13: 77-80, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/624191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">624191</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=624191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1978.tb04131.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Christensen1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Christensen, E.
<strong>Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: experience using first-trimester chorionic villus sampling.</strong>
Prenatal Diag. 14: 333-336, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8084854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8084854</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8084854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/pd.1970140503" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Goodman1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Goodman, S. I., Gallegos, D. A., Pullin, C. J., Halpern, B., Truscott, R. J. W., Wise, G., Wilcken, B., Ryan, E. D., Whelan, D. T.
<strong>Antenatal diagnosis of glutaric acidemia.</strong>
Am. J. Hum. Genet. 32: 695-699, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6893520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6893520</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6893520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Goodman1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Goodman, S. I., Kratz, L. E., DiGiulio, K. A., Biery, B. J., Goodman, K. E., Isaya, G., Frerman, F. E.
<strong>Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.</strong>
Hum. Molec. Genet. 4: 1493-1498, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541831</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8541831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/4.9.1493" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Goodman1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Goodman, S. I., Markey, S. P., Moe, P. G., Miles, B. S., Teng, C. C.
<strong>Glutaric aciduria; a 'new' disorder of amino acid metabolism.</strong>
Biochem. Med. 12: 12-21, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1137568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1137568</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1137568" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0006-2944(75)90091-5" target="_blank">Full Text</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Goodman1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Goodman, S. I., Moe, P. G., Markey, S. P.
<strong>Glutaric aciduria: a 'new' inborn error of amino acid metabolism. (Abstract)</strong>
Am. J. Hum. Genet. 26: 36A, 1974.
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<a id="Gurbuz2020" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gurbuz, B. B., Yilmaz, D. Y., Coskun, T., Tokath, A., Dursun, A., Sivri, H. S.
<strong>Glutaric aciduria type 1: genetic and phenotypic spectrum in 53 patients.</strong>
Europ. J. Med. Genet. 63: 104032, 2020.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32777384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32777384</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32777384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ejmg.2020.104032" target="_blank">Full Text</a>]
</p>
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<a id="15" class="mim-anchor"></a>
<a id="Hedlund2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hedlund, G. L., Longo, N., Pasquali, M.
<strong>Glutaric acidemia type 1.</strong>
Am. J. Med. Genet. 142C: 86-94, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16602100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16602100</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16602100[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16602100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.c.30088" target="_blank">Full Text</a>]
</p>
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<a id="16" class="mim-anchor"></a>
<a id="Heringer2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Heringer, J., Boy, S. P. N., Ensenauer, R., Assmann, B., Zschocke, J., Harting, I., Lucke, T., Maier, E. M., Muhlhausen, C., Haege, G., Hoffmann, G. F., Burgard, P., Kolker, S.
<strong>Use of guidelines improves the neurological outcome in glutaric aciduria type 1.</strong>
Ann. Neurol. 68: 743-752, 2010.
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[<a href="https://doi.org/10.1002/ana.22095" target="_blank">Full Text</a>]
</p>
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<a id="17" class="mim-anchor"></a>
<a id="Hoffmann1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hoffmann, G. F., Bohles, H. J., Burlina, A., Duran, M., Herwig, J., Lehnert, W., Leonard, J. V., Muntau, A., Plecko-Starting, F. K., Superti-Furga, A., Trefz, F. K., Christensen, E.
<strong>Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.</strong>
J. Inherit. Metab. Dis. 18: 173-176, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7564239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7564239</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7564239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00711759" target="_blank">Full Text</a>]
</p>
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<a id="18" class="mim-anchor"></a>
<a id="Kolker2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kolker, S., Christensen, E., Leonard, J. V., Greenberg, C. R., Burlina, A. B., Burlina, A. P., Dixon, M., Duran, M., Goodman, S. I., Koeller, D. M., Muller, E., Naughten, E. R., Neumaier-Probst, E., Okun, J. G., Kyllerman, M., Surtees, R. A., Wilcken, B., Hoffmann, G. F., Burgard, P.
<strong>Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).</strong>
J. Inherit. Metab. Dis. 30: 5-22, 2007.
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[<a href="https://doi.org/10.1007/s10545-006-0451-4" target="_blank">Full Text</a>]
</p>
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<a id="19" class="mim-anchor"></a>
<a id="Kulkens2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kulkens, S., Harting, I., Sauer, S., Zschocke, J., Hoffmann, G. F., Gruber, S., Bodamer, O. A., Kolker, S.
<strong>Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency.</strong>
Neurology 64: 2142-2144, 2005.
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[<a href="https://doi.org/10.1212/01.WNL.0000167428.12417.B2" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
<a id="Kyllerman1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kyllerman, M., Skjeldal, O. H., Lundberg, M., Holme, I., Jellum, E., von Dobeln, U., Fossen, A., Carlsson, G.
<strong>Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations.</strong>
Mov. Disord. 9: 22-30, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8139602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8139602</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8139602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/mds.870090105" target="_blank">Full Text</a>]
</p>
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<a id="21" class="mim-anchor"></a>
<a id="Leibel1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Leibel, R. L., Shih, V. E., Goodman, S. I., Bauman, M. L., McCabe, E. R. B., Zwerdling, R. G., Bergman, I., Costello, C.
<strong>Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis.</strong>
Neurology 30: 1163-1168, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6775244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6775244</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6775244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.30.11.1163" target="_blank">Full Text</a>]
</p>
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<a id="22" class="mim-anchor"></a>
<a id="Mandel1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mandel, H., Braun, J., El-Peleg, O., Christensen, E., Berant, M.
<strong>Glutaric aciduria type I: brain CT features and a diagnostic pitfall.</strong>
Neuroradiology 33: 75-78, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2027453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2027453</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2027453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00593342" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
<a id="Marti-Masso2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Marti-Masso, J. F., Ruiz-Martinez, J., Makarov, V., Lopez de Munain, A., Gorostidi, A., Bergareche, A., Yoon, S., Buxbaum, J. D., Paisan-Ruiz, C.
<strong>Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.</strong>
Hum. Genet. 131: 435-442, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21912879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21912879</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21912879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s00439-011-1086-6" target="_blank">Full Text</a>]
</p>
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<a id="24" class="mim-anchor"></a>
<a id="Merinero1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Merinero, B., Perez-Cerda, C., Font, L. M., Garcia, M. J., Aparico, M., Lorenzo, G., Martinez Pardo, M., Garzo, C., Martinez-Bermejo, A., Castroviejo, I. P., Christensen, E., Ugarte, M.
<strong>Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency.</strong>
Neuropediatrics 26: 238-242, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8552212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8552212</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8552212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1055/s-2007-979763" target="_blank">Full Text</a>]
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<a id="25" class="mim-anchor"></a>
<a id="Morton1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Morton, D. H., Bennett, M. J., Seargeant, L. E., Nichter, C. A., Kelley, R. I.
<strong>Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.</strong>
Am. J. Med. Genet. 41: 89-95, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1951469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1951469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1951469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320410122" target="_blank">Full Text</a>]
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<a id="26" class="mim-anchor"></a>
<a id="Morton1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Morton, H., Bennett, M., Nichter, C., Kelley, R. I.
<strong>Glutaric aciduria type 1 of the Amish. (Abstract)</strong>
Am. J. Hum. Genet. 45 (suppl.): A9, 1989.
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<a id="Strauss2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Strauss, K. A., Lazovic, J., Wintermark, M., Morton, D. H.
<strong>Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.</strong>
Brain 130: 1905-1920, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17478444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17478444</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17478444" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/brain/awm058" target="_blank">Full Text</a>]
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<a id="Strauss2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Strauss, K. A., Puffenberger, E. G., Robinson, D. L., Morton, D. H.
<strong>Type I glutaric aciduria, part 1: natural history of 77 patients.</strong>
Am. J. Med. Genet. 121C: 38-52, 2003.
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[<a href="https://doi.org/10.1002/ajmg.c.20007" target="_blank">Full Text</a>]
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<a id="Strauss2020" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Strauss, K. A., Williams, K. B., Carson, V. J., Poskitt, L., Bowser, L. E., Young, M., Robinson, D. L., Hendrickson, C., Beiler, K., Taylor, C. M., Haas-Givler, B., Hailey, J., Chopko, S., Puffenberger, E. G., Brigatti, K. W., Miller, F., Morton, D. H.
<strong>Glutaric acidemia type 1: treatment and outcome of 168 patients over three decades.</strong>
Molec. Genet. Metab. 131: 325-340, 2020.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33069577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33069577</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33069577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ymgme.2020.09.007" target="_blank">Full Text</a>]
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<a id="Stutchfield1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stutchfield, P., Edwards, M. A., Gray, R. G. F., Crawley, P., Green, A.
<strong>Glutaric aciduria type I misdiagnosed as Leigh's encephalopathy and cerebral palsy.</strong>
Dev. Med. Child Neurol. 27: 514-521, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4029522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4029522</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4029522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1469-8749.1985.tb04576.x" target="_blank">Full Text</a>]
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<a id="Tortorelli2005" class="mim-anchor"></a>
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Tortorelli, S., Hahn, S. H., Cowan, T. M., Brewster, T. G., Rinaldo, P., Matern, D.
<strong>The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.</strong>
Molec. Genet. Metab. 84: 137-143, 2005.
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[<a href="https://doi.org/10.1016/j.ymgme.2004.09.016" target="_blank">Full Text</a>]
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<a id="Zschocke2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zschocke, J., Quak, E., Guldberg, P., Hoffmann, G. F.
<strong>Mutation analysis in glutaric aciduria type I.</strong>
J. Med. Genet. 37: 177-181, 2000.
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[<a href="https://doi.org/10.1136/jmg.37.3.177" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 12/22/2021
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Hilary J. Vernon - updated : 11/08/2021<br>Hilary J. Vernon - updated : 02/11/2021<br>Cassandra L. Kniffin - updated : 3/26/2012<br>Ada Hamosh - updated : 1/19/2011<br>Cassandra L. Kniffin - updated : 1/8/2009<br>Cassandra L. Kniffin - updated : 1/14/2008<br>Victor A. McKusick - updated : 8/8/2007<br>Cassandra L. Kniffin - updated : 11/4/2005<br>Cassandra L. Kniffin - reorganized : 7/22/2004<br>Carol A. Bocchini - updated : 3/2/2004<br>Natalie E. Krasikov - updated : 2/19/2004<br>Victor A. McKusick - updated : 8/21/2003<br>Victor A. McKusick - updated : 7/7/2003<br>Cassandra L. Kniffin - updated : 1/22/2003<br>George E. Tiller - updated : 9/25/2002<br>Deborah L. Stone - updated : 9/1/2001<br>Ada Hamosh - updated : 4/23/2001<br>Michael J. Wright - updated : 1/5/2001<br>Victor A. McKusick - updated : 8/13/1998<br>Jennifer P. Macke - updated : 5/27/1998<br>Orest Hurko - updated : 3/26/1996<br>Orest Hurko - updated : 3/9/1996<br>Alan F. Scott - updated : 9/26/1995
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Victor A. McKusick : 6/3/1986
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carol : 12/22/2021
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carol : 11/08/2021<br>carol : 02/11/2021<br>carol : 08/09/2017<br>alopez : 04/02/2012<br>terry : 3/28/2012<br>ckniffin : 3/26/2012<br>terry : 2/18/2011<br>alopez : 1/20/2011<br>terry : 1/19/2011<br>wwang : 1/14/2009<br>ckniffin : 1/8/2009<br>carol : 1/21/2008<br>ckniffin : 1/14/2008<br>alopez : 8/27/2007<br>terry : 8/8/2007<br>wwang : 11/14/2005<br>ckniffin : 11/4/2005<br>carol : 8/30/2005<br>terry : 4/20/2005<br>terry : 4/6/2005<br>carol : 7/22/2004<br>ckniffin : 7/16/2004<br>alopez : 3/17/2004<br>carol : 3/2/2004<br>terry : 2/19/2004<br>tkritzer : 8/25/2003<br>tkritzer : 8/25/2003<br>terry : 8/21/2003<br>carol : 7/7/2003<br>carol : 1/29/2003<br>ckniffin : 1/22/2003<br>cwells : 9/25/2002<br>ckniffin : 6/13/2002<br>carol : 9/1/2001<br>cwells : 5/22/2001<br>cwells : 5/9/2001<br>cwells : 5/8/2001<br>terry : 4/23/2001<br>alopez : 1/5/2001<br>carol : 2/9/1999<br>carol : 8/14/1998<br>terry : 8/13/1998<br>dholmes : 5/27/1998<br>dholmes : 5/27/1998<br>dholmes : 5/21/1998<br>terry : 12/30/1996<br>terry : 12/19/1996<br>terry : 4/15/1996<br>mark : 3/26/1996<br>terry : 3/21/1996<br>mark : 3/9/1996<br>terry : 3/1/1996<br>mark : 1/8/1996<br>mark : 9/22/1995<br>terry : 8/24/1994<br>jason : 6/7/1994<br>carol : 4/1/1994<br>mimadm : 2/19/1994
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<strong>#</strong> 231670
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GLUTARIC ACIDEMIA I; GA1
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<em>Alternative titles; symbols</em>
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GLUTARIC ACIDURIA I<br />
GA I<br />
GLUTARYL-CoA DEHYDROGENASE DEFICIENCY
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<strong>SNOMEDCT:</strong> 360416003; &nbsp;
<strong>ICD10CM:</strong> E72.3; &nbsp;
<strong>ORPHA:</strong> 25; &nbsp;
<strong>DO:</strong> 0111254; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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19p13.13
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Glutaricaciduria, type I
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231670
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Autosomal recessive
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3
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GCDH
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608801
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because glutaric acidemia I (GA1) is caused by homozygous or compound heterozygous mutation in the gene encoding glutaryl-CoA dehydrogenase (GCDH; 608801) on chromosome 19p13.</p>
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<strong>Description</strong>
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<p>Glutaric acidemia I is an autosomal recessive metabolic disorder characterized by gliosis and neuronal loss in the basal ganglia and a progressive movement disorder that usually begins during the first year of life (Goodman et al., 1995). </p><p>Hedlund et al. (2006) provided a detailed review of the clinical and biochemical aspects of glutaric acidemia type I. </p>
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<strong>Clinical Features</strong>
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<p>Goodman et al. (1974) described glutaric aciduria and acidemia in a brother and sister with a neurodegenerative disorder beginning at about 6 months of age and characterized by opisthotonos, dystonia, and athetoid posturing. The glutaric aciduria was increased by oral administration of L-lysine, which is metabolized through glutaryl-CoA, and was decreased by reduced protein intake. Metabolism of radioactive glutaryl-CoA was deficient in white cells, a result compatible with inherited deficiency of glutaryl-CoA dehydrogenase (Goodman et al., 1975). </p><p>Brandt et al. (1978) described a 10-year-old girl with progressive dystonic cerebral palsy. The urine contained large amounts of glutaric acid. From a review of this and 4 cases reported earlier, the authors concluded that disorders in the metabolism of organic acids should be sought in patients with progressive dystonic palsy. Lysed leukocytes from their patient showed severe impairment in the ability to metabolize glutaryl-CoA. </p><p>Amir et al. (1987) described 2 pairs of sibs with this disorder. All had a unique pattern of frontotemporal atrophy on computerized tomography (CT). Remarkably, in both sib pairs, 1 child was asymptomatic. All 12 previously reported patients had a homogeneous phenotype presenting in infancy with debilitating dystonia and choreoathetosis. </p><p>In an affected infant with glutaric aciduria, Mandel et al. (1991) described CT findings of dilatation of the insular cisterns, regression of the temporal lobes, with 'bat wings' dilatation of the Sylvian fissures and hypodensity of the lenticular nuclei. CT changes preceded the onset of symptoms by 3 months. Improvement in the temporal lobe atrophy was observed after a period of treatment, coincident with marked clinical improvement. </p><p>In 14 children with type I glutaric aciduria from the Old Order Amish community in Lancaster County, Pennsylvania, Morton et al. (1991) noted a remarkably variable clinical picture ranging from acute infantile encephalopathy and sudden death to static extrapyramidal cerebral palsy. In 10 patients, the disorder was first manifest between 3 and 18 months during an acute infectious illness. Four of these children died in early childhood, also during acute illnesses. However, there had been little progression of the neurologic disorder after age 5 years in the surviving children, and intellect was usually preserved even in children with severe spastic paralysis. They suggested that restriction of dietary protein and limitation of protein catabolism, dehydration, and acidosis during illnesses may prevent the onset or progression of neurologic disease in Amish patients with this disorder. Morton et al. (1991) presented a pedigree chart tracing both parents of all except one case to John Lapp and his wife, who immigrated to the United States in the 1730s. The oldest patient was a 28-year-old man who was normal until age 3 months when, after a period of irritability and poor feeding on day 7 of a varicella infection, he experienced an acute, afebrile episode of tonic posturing and thereafter became flaccid and unresponsive. After recovery from the acute episode, which was diagnosed as varicella encephalitis, he was left with a residual spastic diplegia, partial bulbar palsy, and choreoathetosis. GA I was diagnosed based on a urinary glutaric acid level of 166 mg/g creatinine. Despite spastic diplegia and moderate choreoathetosis, he had normal intelligence and regularly worked in a carriage and harness repair shop. There had been no apparent progression of his neurologic disease since the single damaging illness at age 3 months. </p><p>Kyllerman et al. (1994) reported 12 new patients, aged 9 months to 16 years, comprising all known patients with GA I in Sweden and Norway. Ten had a severe dystonic-dyskinetic disorder, 1 had a mild hyperkinetic disorder, and 1 was asymptomatic. Two children died in a state of hyperthermia. Carnitine deficiency and malnutrition developed in patients with severe dystonia and dysphagia, which necessitated replacement therapy and gastrostomy. A slowly progressive dyskinetic disorder developed in 1 subject despite adequate early dietary treatment. Macrocephaly was found in 3. Computed tomography and magnetic resonance investigations in 10 showed deep bitemporal spaces in 7. Neuropsychologic testing of 8 of 12 subjects demonstrated receptive language function to be superior to expressive language and motor function, although cognitive functions were less affected than motor functions. A review of 57 pooled cases demonstrated that a severe dystonic syndrome developed in 77% and a mild extrapyramidal syndrome in 10%, while 12% were asymptomatic. </p><p>Hoffmann et al. (1995) presented the clinical findings in more than 21 patients with GCDH deficiency. Seventy-six percent of the patients presented with an acute encephalopathic crisis, mostly associated with an upper respiratory and/or gastrointestinal infection between the ages of 2 and 37 months. The metabolic symptoms, such as hypoglycemia and metabolic acidosis, were minimal. After recovery the children had lost most motor skills and functioned at a 1- to 2-month-old level. At that point, the very distinctive clinical picture of a severe dystonic-dyskinetic syndrome in alert-looking children with relatively well-preserved intellectual functions and a prominent forehead could be recognized. About one-fourth of the patients never suffered encephalopathic crisis but presented with subacute motor delay. These patients showed developmental delay from birth and a progressive dystonic 'cerebral palsy.' Hoffmann et al. (1995) observed that, whereas in most patients with GCDH deficiency there is often remarkable discrepancy between the severe motor impairment and the normal or near-normal intellectual functions until late in the disease process, children who never develop normally are more likely to be impaired mentally. Forty-three percent of this series showed macrocephaly at birth and 67% showed macrocephaly in infancy. Profuse sweating was noted in 35%. </p><p>Merinero et al. (1995) described 7 new patients with severe deficiency of glutaryl-CoA dehydrogenase in cultured skin fibroblasts, only 3 of which excreted high levels of glutaric acid in the urine. High levels of glutaric acid were seen in the spinal fluid of all these patients. The patients presented between 6 months and 2 years of age with either seizures or hypotonia and dystonia. All but 1 had severe impairment of psychomotor development and abnormalities on T2-weighted MRI, chiefly bilateral hyperdensities of basal ganglia, atrophy of the temporal lobe, or extensive white matter hypodensities. </p><p>Bjugstad et al. (2000) performed a forward, stepwise, multiple regression analysis to find predictors for outcome in 115 previously described patients with glutaric acidemia type I. The analyses showed that in patients who did not have a precipitating illness before the first appearance of motor symptoms, the age at onset was significantly associated with the severity of motor impairments and overall clinical outcome. In patients who had a precipitating illness, the age at onset did not predict the outcome. In both groups of patients, basal ganglia degeneration, enlargement of spaces containing cerebrospinal fluid, and white matter abnormalities were indicative of a poorer prognosis. Treatment given after the appearance of symptoms was not associated with a better clinical outcome or fewer motor deficits. </p><p>In a discussion of the natural history of GA I, Strauss et al. (2003) commented that micrencephalic macrocephaly is a distinctive radiologic feature of GA I. In most neonates, an enlarged head circumference is the only presenting sign of the disorder. The authors pointed to radiologic signs of large fluid collections in the middle cranial fossae. Veins could be seen stretching tenuously across this space, where they are subject to distortion and rupture. Acute subdural hemorrhage can occur after minor head trauma and in some instances is accompanied by retinal hemorrhages. Investigation of child abuse preceded a correct metabolic diagnosis in some non-Amish children. </p><p>Strauss et al. (2003) summarized the clinical characteristics of 37 Amish and 40 non-Amish patients with GA I. Of the Amish patients, 17 were identified retrospectively and 20 were treated prospectively following diagnosis through screening of asymptomatic newborns. In all groups, basal ganglia degeneration was the major determinant of functional disability. The incidence of basal ganglia injury was 85% in non-Amish patients and 94% in retrospectively identified Amish children. In the other 20 Amish children, most of them diagnosed by neonatal screening, prospective management was accompanied by a basal ganglia injury rate of 35%. Acute striatal necrosis was the major cause of morbidity and mortality, and dystonia caused chronic medical and surgical complications. In older patients, exercise intolerance, hypoglycemia, and seizures often developed. Strauss et al. (2003) stated that fasting hypoglycemia probably has 2 distinct causes in GA I: nonketosis and hypoketosis. The former results from carnitine deficiency, which can also give rise to myopathy, cardiomyopathy, and Reye-like hepatocerebral crisis, and the latter can occur during intercurrent illness even in carnitine-supplemented children. </p><p>Bahr et al. (2002) reported a previously healthy 19-year-old woman who presented with recurrent headaches, oculomotor symptoms, and a severe leukoencephalopathy on MRI. Subsequent evaluation revealed increased urinary glutaric acid and compound heterozygosity for mutations in the GCDH gene. </p><p>Kulkens et al. (2005) reported 2 unrelated patients who developed neurologic signs at ages 35 and 15 years, respectively. The first patient had onset of headaches at age 35, developed tremor of both arms at age 50, and had 6 tonic-clonic seizures between ages 54 and 62. At age 63, he developed ataxia, progressive dementia, and speech problems. The other patient developed headache, vertigo, and gait disturbance at age 15 years following an upper respiratory tract infection. Both patients had macrocephaly from birth and showed supratentorial leukoencephalopathy. Genetic analysis confirmed glutaryl-CoA dehydrogenase deficiency. Clinical treatment resulted in improvement and full recovery, respectively. </p><p>Despite early diagnosis, one-third of Amish infants with glutaryl-CoA dehydrogenase deficiency developed striatal lesions that leave them permanently disabled. To better understand mechanisms of striatal degeneration, Strauss et al. (2007) retrospectively studied imaging results from 25 Amish patients homozygous for the 1296C-T mutation in GCDH (608801.0002). Asymptomatic infants had reduced glucose tracer uptake and increased blood volume throughout the gray matter, which may signify predisposition to brain injury. Striatal lesions developed in 9 children (36%): 3 had sudden motor regression during infancy, whereas 6 had insidious motor delay associated with striatal lesions of undetermined onset. Acute striatal necrosis consisted of 3 stages: (1) an acute stage within 24 hours of motor regression, characterized by cytotoxic edema within the basal ganglia, cerebral oligemia, and rapid transit of blood throughout the gray matter; (2) a subacute stage, 4 to 5 days after the onset of clinical symptoms, characterized by reduced striatal perfusion and glucose uptake, and supervening vasogenic edema; and (3) a chronic stage of striatal atrophy. Strauss et al. (2007) suggested that intravenous fluid and dextrose therapy for illnesses during the first 2 years of life was the only intervention that was clearly neuroprotective in these patients. </p><p>Marti-Masso et al. (2012) reported 2 adult Spanish sisters with onset in infancy of a severe progressive form of dystonia affecting the upper and lower limbs, face, neck, and trunk, and resulting in severe speech impairment and the inability to walk by the teenage years. Neither had macrocephaly, organomegaly, cognitive impairment, or acute encephalopathy in childhood. Whole-exome sequence analysis identified a homozygous mutation in the GCDH gene (V400M; 608801.0008), consistent with glutaric acidemia. Laboratory studies showed decreased long-chain acylcarnitines and high excretion of 3-hydroxyglutaric acid, but urinary glutaric acid excretion was normal. Brain imaging showed increased signals in the lenticular nuclei. The findings implicated mitochondrial fatty acid metabolism as an important pathway in the development of dystonia, and Marti-Masso et al. (2012) concluded that GCDH mutation analysis should be considered in the differential diagnosis of progressive forms of early-onset generalized dystonia. </p><p>Gurbuz et al. (2020) described 53 Turkish patients, aged 1 to 49 years, with glutaric acidemia type I. The patients had an average age of symptom onset of 1.36 years with a range of 0.08 to 12 years. Initial clinical findings in the symptomatic patients included seizures in 18, retardation in 18, hydrocephalus in 8, and subdural effusion in 2. There was not a significant association between the onset of disease and initial findings. Encephalopathic crisis and macrocephaly were detected in 32 and 33 patients, respectively. There was not a statistically significant association between the onset of disease and encephalopathic crisis or macrocephaly. Clinical outcomes of patients included severe motor/mental retardation (MMR) in 18, mild MMR in 12, mild dystonia with normal mental status in 1, and severe MMR with autism in 1. Six patients were asymptomatic sibs of an affected individual and were detected through family screening. Biochemical findings included elevated glutaric acid in 47 patients, decreased C0 acylcarnitine in 46, and increased C5DC acylcarnitine in 48. </p>
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<strong>Diagnosis</strong>
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<p>Kyllerman et al. (1994) noted that glutaric aciduria may go undetected in patients with cerebral palsy and mental retardation. In patients suspected of having the disorder, repeated examinations of organic acids in the urine and enzyme assay may be necessary to confirm the diagnosis. </p><p>Tortorelli et al. (2005) found that the urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia I in patients with inconclusive biochemical findings. </p><p>Boy et al. (2018) evaluated the clinical history in 94 individuals from Germany who were identified between 1999 and 2016 with GA1, including 87 patients who were identified by newborn screening, 4 patients missed by newborn screening, and 3 women identified with GA1 because of a positive newborn screen of their unaffected child. Overall, newborn screening with C5DC had an estimated sensitivity of 95.6%, but the sensitivity was lower for patients with a low excreter phenotype (84%). Available molecular genetic results were as follows: 35 patients were homozygous and 38 patients were compound heterozygous for mutations in the GCDH gene; in 2 patients with a high excreter phenotype and 1 patient with a low-excreter phenotype only 1 mutation in GCDH was found; and in 1 patient, 3 mutations in GCDH were identified. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
Goodman et al. (1980) monitored 2 pregnancies at risk for glutaric acidemia type I. In 1 case in which the fetus was unaffected, glutaric acid was not detected in the amniotic fluid at amniocentesis (15 weeks) and the glutaryl-CoA dehydrogenase activity of cultured amniotic cells was normal. In the other case, there was a marked increase of glutaric acid in the amniotic fluid as well as a deficiency of glutaryl-CoA dehydrogenase in cultured amniotic cells. The pregnancy was terminated, and postmortem studies confirmed the diagnosis of glutaric acidemia. </p><p>Christensen (1994) described experience with chorionic villus sampling for first-trimester diagnosis of this disorder. Among 16 pregnancies, 4 were predicted to represent an affected fetus; in 3 of the affected cases, GCDH activity was measured in both uncultured and cultured chorionic cells and the correct diagnosis was established by both measurements. </p>
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<strong>Clinical Management</strong>
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<p>Heringer et al. (2010) summarized the guidelines published by Kolker et al. (2007) for the management of glutaryl-CoA dehydrogenase deficiency. Recommendations included a lysine-restricted diet to reduce the accumulation of the neurotoxic metabolites glutaric acid, 3-hydroxyglutaric acid, and glutaryl-CoA deriving from the precursor amino acid lysine; the supplementation of carnitine to prevent secondary carnitine depletion, to facilitate production of the nontoxic C5DC, and to replenish the intracellular free coenzyme A pool; and the intermittent and stepwise intensification of metabolic treatment using a high-calorie, low- or no-protein emergency treatment protocol during putatively threatening episodes such as infectious disease to prevent striatal injury. Heringer et al. (2010) assessed the outcome of 52 patients identified by a newborn screen in Germany from 1999 to 2009. Outcome was evaluated in relationship to therapy and therapy-independent parameters. According to following the guidelines of Kolker et al. (2007), Heringer et al. (2010) found that outcome was best in glutaric aciduria-1 patients who were treated in full accordance with treatment recommendations (n = 37; 5% had movement disorder (MD)). Deviations from recommended basic metabolic treatment (low-lysine diet, carnitine) resulted in an intermediate outcome (n = 9; 44% MD), whereas disregard of emergency treatment recommendations was associated with a poor outcome (n = 6; 100% MD). Treatment regimens deviating from recommendations significantly increased the risk for movement disorder (OR, 35; 95% CI, 5.88-208.39) and acute encephalopathic crises (OR, 51.32; 95% CI, 2.65-993.49). Supervision by a metabolic center improved the outcome (18% vs 57% MD; OR, 6.17; 95% CI, 1.15-33.11), whereas migrational background and biochemical phenotype (high vs low excreter status) had no significant effect. </p><p>Strauss et al. (2020) reported clinical outcomes in 168 individuals with glutaric acidemia type I, stratified into 3 cohorts based on treatment. In cohort I, 60 patients (born between 2006-2019) were identified by newborn screening and treated prospectively with a lysine-free, arginine-enriched formula, enteral L-carnitine, and emergency intravenous infusions of dextrose, saline and L-carnitine during illness (anorexia, gastroenteritis, and/or signs of infectious illness lasting more than 1 to 2 days in children less than 24 months of age). Fifty-seven patients in cohort II (born between 1989-2018) were identified by newborn screening and treated with a protein-restricted diet and emergency intravenous infusions. Fifty-one patients in cohort III (born between 1973-2016) did not receive newborn screening or a special diet. The incidence of striatal injury in cohorts I, II, and III was 7%, 47%, and 90%, respectively. Adherence to metabolic formula and L-carnitine supplementation in cohort I declined to 12% and 32%, respectively, by age 7 years, which was associated with increased plasma lysine/arginine ratio and decreased plasma free and total carnitine, respectively. No neurologic injuries occurred after 19 months of age, and among children in cohort I who did not have neurologic injuries, growth, motor development, and cognitive function were normal. Of the 77 total patients who did have a brain injury, 18 were lost to follow-up, and of the remaining 59 patients, 14 died from complications of dystonia at a median age of 14.5 years. Strauss et al. (2020) concluded that neonatal diagnosis coupled with management with a lysine-free, arginine-rich formula and emergency IV infusions in the first 2 years of life is effective and safe. Strauss et al. (2020) did not make recommendations about cessation of dietary therapy with increasing age, stating that more research was necessary. </p><p>Boy et al. (2018) evaluated clinical treatment and outcomes in 94 individuals from Germany identified between 1999 and 2016 with glutaric acidemia type I, including 87 patients who were identified by newborn screening, 4 patients missed by newborn screening, and 3 women identified with GA1 because of a positive newborn screen of their unaffected child. Sixty-four patients had a high excreter phenotype and 21 patients had a low excreter phenotype. Fifty-six patients (64%) who were detected by newborn screen remained asymptomatic, 26 patients (30%) had major motor symptoms, and 5 patients (6%) had minor motor symptoms. Outcomes were assessed in association with adherence to maintenance and emergency therapy. Maintenance therapy included a low-lysine diet supplemented with a lysine-free, tryptophan-reduced, arginine-containing formula in patients up to 6 years of age, a protein-controlled diet for patients older than 6 years, and lifelong supplementation with carnitine. Emergency therapy included a carbohydrate-enriched, low- or no-protein protocol initiated during catabolic episodes (e.g., fever, vomiting). Among the patients who had presymptomatic initiation of treatment and adherence to both maintenance therapy and emergency treatment, 7% developed a movement disorder. Of the patients who did not have presymptomatic initiation of treatment, 100% had an acute onset of a movement disorder. Nonadherence to emergency treatment had the strongest impact on outcome, with patients usually developing a severe movement disorder. Patients who didn't follow recommendations for maintenance therapy mostly had increased risk for a mild insidious onset of dystonia. Kidney function was found to decline with age regardless of neurologic phenotype. </p>
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<strong>Molecular Genetics</strong>
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<p>In a Navajo child with glutaric acidemia type I, Biery and Goodman (1992) and Goodman et al. (1995) identified homozygosity for a mutation in the GCDH gene (608801.0001). </p><p>Among 64 unrelated patients with glutaric acidemia type I, Biery et al. (1996) identified 12 mutations and several polymorphisms in 7 exons of the GCDH gene (see, e.g., 608801.0007-608801.0009). Several mutations were found in more than one patient, but no one prevalent mutation was detected in the general population. However, a single mutation was found as the cause of glutaric acidemia in the Old Order Amish of Lancaster County, Pennsylvania (A421V; 608801.0002). </p><p>By direct sequencing of the GCDH gene in 53 Turkish patients with GA1 from 39 unrelated families, Gurbuz et al. (2020) identified mutations in 46 patients, 40 of whom had homozygous mutations. About 85% of the patients came from consanguineous families. Twenty different mutations, 7 of which were novel, were identified, including 17 missense, 2 deletions, and 1 nonsense. The most common mutations were R402W (608801.0004), P248L, and L340F, with a frequency of 21.2%, 18.2%, and 12.1%, respectively. </p>
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<strong>Population Genetics</strong>
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<p>Morton et al. (1989, 1991) described type I glutaric aciduria in 14 children from the Old Order Amish community in Lancaster County, Pennsylvania. The authors estimated a 10% carrier frequency for this disorder among the Lancaster County Old Order Amish. </p><p>Among 48 individuals with confirmed GCDH deficiency, Zschocke et al. (2000) identified a total of 38 different mutations. R402W (608801.0004) was the most common mutation in Europeans, accounting for 40% of alleles in patients of German origin. </p><p>Glutaric acidemia type I occurs in about 1 in 100,000 infants worldwide (Hedlund et al., 2006). </p>
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<strong>See Also:</strong>
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<span class="mim-text-font">
Bennett et al. (1986); Leibel et al. (1980); Stutchfield et al.
(1985)
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<strong>REFERENCES</strong>
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Amir, N., El-Peleg, O., Shalev, R. S., Christensen, E.
<strong>Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features.</strong>
Neurology 37: 1654-1657, 1987.
[PubMed: 3658174]
[Full Text: https://doi.org/10.1212/wnl.37.10.1654]
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<p class="mim-text-font">
Bahr, O., Mader, I., Zschocke, J., Dichgans, J., Schulz, J. B.
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Neuroradiology 33: 75-78, 1991.
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Merinero, B., Perez-Cerda, C., Font, L. M., Garcia, M. J., Aparico, M., Lorenzo, G., Martinez Pardo, M., Garzo, C., Martinez-Bermejo, A., Castroviejo, I. P., Christensen, E., Ugarte, M.
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Morton, D. H., Bennett, M. J., Seargeant, L. E., Nichter, C. A., Kelley, R. I.
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Strauss, K. A., Williams, K. B., Carson, V. J., Poskitt, L., Bowser, L. E., Young, M., Robinson, D. L., Hendrickson, C., Beiler, K., Taylor, C. M., Haas-Givler, B., Hailey, J., Chopko, S., Puffenberger, E. G., Brigatti, K. W., Miller, F., Morton, D. H.
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Stutchfield, P., Edwards, M. A., Gray, R. G. F., Crawley, P., Green, A.
<strong>Glutaric aciduria type I misdiagnosed as Leigh&#x27;s encephalopathy and cerebral palsy.</strong>
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Tortorelli, S., Hahn, S. H., Cowan, T. M., Brewster, T. G., Rinaldo, P., Matern, D.
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Hilary J. Vernon - updated : 12/22/2021<br>Hilary J. Vernon - updated : 11/08/2021<br>Hilary J. Vernon - updated : 02/11/2021<br>Cassandra L. Kniffin - updated : 3/26/2012<br>Ada Hamosh - updated : 1/19/2011<br>Cassandra L. Kniffin - updated : 1/8/2009<br>Cassandra L. Kniffin - updated : 1/14/2008<br>Victor A. McKusick - updated : 8/8/2007<br>Cassandra L. Kniffin - updated : 11/4/2005<br>Cassandra L. Kniffin - reorganized : 7/22/2004<br>Carol A. Bocchini - updated : 3/2/2004<br>Natalie E. Krasikov - updated : 2/19/2004<br>Victor A. McKusick - updated : 8/21/2003<br>Victor A. McKusick - updated : 7/7/2003<br>Cassandra L. Kniffin - updated : 1/22/2003<br>George E. Tiller - updated : 9/25/2002<br>Deborah L. Stone - updated : 9/1/2001<br>Ada Hamosh - updated : 4/23/2001<br>Michael J. Wright - updated : 1/5/2001<br>Victor A. McKusick - updated : 8/13/1998<br>Jennifer P. Macke - updated : 5/27/1998<br>Orest Hurko - updated : 3/26/1996<br>Orest Hurko - updated : 3/9/1996<br>Alan F. Scott - updated : 9/26/1995
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