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<title>
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Entry
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- #620398 - GLYCINE ENCEPHALOPATHY 2; GCE2
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- OMIM
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<span class="h4">#620398</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/620398"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS605899"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=620398[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</a>
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</span>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0061001" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/620398" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>DO:</strong> 0061001<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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620398
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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GLYCINE ENCEPHALOPATHY 2; GCE2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/3/311?start=-3&limit=10&highlight=311">
|
|
3p21.31
|
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</a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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Glycine encephalopathy 2
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/620398"> 620398 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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AMT
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/238310"> 238310 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/620398" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS605899" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/620398" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/620398" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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 />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
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Impaired intellectual development, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194819&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194819</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
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Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Cerebral atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
|
- Elevated levels of glycine in the CSF and plasma<br /> -
|
|
Glycinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236477004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236477004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0341706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0341706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003108" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003108</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003108" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003108</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<div>
|
|
<span class="mim-font">
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|
|
- Caused by mutation in the aminomethyltransferase gene (AMT, <a href="/entry/238310#0001">238310.0001</a>)<br />
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|
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</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
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</div>
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Glycine encephalopathy
|
|
- <a href="/phenotypicSeries/PS605899">PS605899</a>
|
|
- 2 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
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|
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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|
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<a href="/geneMap/3/311?start=-3&limit=10&highlight=311"> 3p21.31 </a>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/620398"> Glycine encephalopathy 2 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620398"> 620398 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/238310"> AMT </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/238310"> 238310 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/9/41?start=-3&limit=10&highlight=41"> 9p24.1 </a>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/605899"> Glycine encephalopathy1 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/605899"> 605899 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/238300"> GLDC </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/238300"> 238300 </a>
|
|
</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
|
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</div>
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<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because glycine encephalopathy-2 (GCE2) is caused by homozygous or compound heterozygous mutation in the AMT gene (<a href="/entry/238310">238310</a>), which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<p>Glycine encephalopathy (GCE), also called nonketotic hyperglycinemia (NKH), is an inborn error of metabolism characterized by accumulation of a large amount of glycine in body fluids. Typical cases have severe neurologic features, including seizures, lethargy, and muscular hypotonia soon after birth, and most die with the neonatal period; atypical cases have later onset and less severe psychomotor development (summary by <a href="#4" class="mim-tip-reference" title="Nanao, K., Okamura-Ikeda, K., Motokawa, Y., Danks, D. M., Baumgartner, E. R., Takada, G., Hayasaka, K. <strong>Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.</strong> Hum. Genet. 93: 655-658, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8005589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8005589</a>] [<a href="https://doi.org/10.1007/BF00201565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8005589">Nanao et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8005589" 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>For a general description and a discussion of genetic heterogeneity of glycine encephalopathy, see GCE1 (<a href="/entry/605899">605899</a>).</p>
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<p><a href="#2" class="mim-tip-reference" title="Hayasaka, K., Tada, K., Kikuchi, G., Winter, S., Nyhan, W. L. <strong>Nonketotic hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system.</strong> Pediat. Res. 17: 967-970, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6336599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6336599</a>] [<a href="https://doi.org/10.1203/00006450-198312000-00008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6336599">Hayasaka et al. (1983)</a> studied the glycine cleavage system in the liver and brain obtained at autopsy in 2 male infants with the typical form of nonketotic hyperglycinemia. In the first infant a defect in the P protein was found; in the second, T protein was defective. The second infant appeared well at birth and nursed well the first day. He was hospitalized on the third day with 'lethargy, bordering on coma.' Despite ventilatory support, 7 exchange transfusions to lower blood glycine, and treatment with sodium benzoate and strychnine, he died on the twentieth day. T protein was undetectable in the brain and extremely low in liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6336599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Nanao, K., Okamura-Ikeda, K., Motokawa, Y., Danks, D. M., Baumgartner, E. R., Takada, G., Hayasaka, K. <strong>Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.</strong> Hum. Genet. 93: 655-658, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8005589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8005589</a>] [<a href="https://doi.org/10.1007/BF00201565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8005589">Nanao et al. (1994)</a> described patients with GCE caused by mutation in the AMT gene. Patient A was a 19-year-old girl, born of nonconsanguineous Italian parents, with typical GCE. She reportedly had an older affected sister who died at the age of 3 weeks after a classic clinical course. Patient B was a 9-year-old girl, born of nonconsanguineous parents, with atypical GCE. Her development was normal until her second year of life when developmental delay became apparent. Her deceased older sister also had atypical GCE. Patient B and her sister were previously reported by <a href="#1" class="mim-tip-reference" title="Haan, E. A., Kirby, D. M., Tada, K., Hayasaka, K., Danks, D. M. <strong>Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia: observations on sisters with a mild T-protein defect.</strong> Europ. J. Pediat. 145: 267-270, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3769993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3769993</a>] [<a href="https://doi.org/10.1007/BF00439398" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3769993">Haan et al. (1986)</a> <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3769993+8005589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Kure, S., Mandel, H., Rolland, M.-O., Sakata, Y., Shinka, T., Drugan, A., Boneh, A., Tada, K., Matsubara, Y., Narisawa, K. <strong>A missense mutation (his42arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.</strong> Hum. Genet. 102: 430-434, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600239</a>] [<a href="https://doi.org/10.1007/s004390050716" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9600239">Kure et al. (1998)</a> reported 14 children with typical GCE in a consanguineous Israeli-Arab kindred. All of the patients had seizures and respiratory failure within 2 days after birth, and all had a mutation in the AMT gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9600239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of GCE2 in the families reported by <a href="#4" class="mim-tip-reference" title="Nanao, K., Okamura-Ikeda, K., Motokawa, Y., Danks, D. M., Baumgartner, E. R., Takada, G., Hayasaka, K. <strong>Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.</strong> Hum. Genet. 93: 655-658, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8005589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8005589</a>] [<a href="https://doi.org/10.1007/BF00201565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8005589">Nanao et al. (1994)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8005589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 19-year-old girl (patient A) with typical GCE2, <a href="#4" class="mim-tip-reference" title="Nanao, K., Okamura-Ikeda, K., Motokawa, Y., Danks, D. M., Baumgartner, E. R., Takada, G., Hayasaka, K. <strong>Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.</strong> Hum. Genet. 93: 655-658, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8005589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8005589</a>] [<a href="https://doi.org/10.1007/BF00201565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8005589">Nanao et al. (1994)</a> identified a homozygous missense mutation in the AMT gene (G269D; <a href="/entry/238310#0001">238310.0001</a>). Her parents and an unaffected sib were heterozygous for the mutation. In a 9-year-old girl (patient B) and her deceased sister with atypical GCE2, previously reported by <a href="#1" class="mim-tip-reference" title="Haan, E. A., Kirby, D. M., Tada, K., Hayasaka, K., Danks, D. M. <strong>Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia: observations on sisters with a mild T-protein defect.</strong> Europ. J. Pediat. 145: 267-270, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3769993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3769993</a>] [<a href="https://doi.org/10.1007/BF00439398" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3769993">Haan et al. (1986)</a>, <a href="#4" class="mim-tip-reference" title="Nanao, K., Okamura-Ikeda, K., Motokawa, Y., Danks, D. M., Baumgartner, E. R., Takada, G., Hayasaka, K. <strong>Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.</strong> Hum. Genet. 93: 655-658, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8005589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8005589</a>] [<a href="https://doi.org/10.1007/BF00201565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8005589">Nanao et al. (1994)</a> identified compound heterozygous mutations in the AMT gene (G47D, <a href="/entry/238310#0002">238310.0002</a> and R320H, <a href="/entry/238310#0006">238310.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3769993+8005589" 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 affected members of a consanguineous Israeli-Arab kindred with typical GCE2, <a href="#3" class="mim-tip-reference" title="Kure, S., Mandel, H., Rolland, M.-O., Sakata, Y., Shinka, T., Drugan, A., Boneh, A., Tada, K., Matsubara, Y., Narisawa, K. <strong>A missense mutation (his42arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.</strong> Hum. Genet. 102: 430-434, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600239</a>] [<a href="https://doi.org/10.1007/s004390050716" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9600239">Kure et al. (1998)</a> identified a homozygous missense mutation in the AMT gene (H42R; <a href="/entry/238310#0003">238310.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9600239" 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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Haan, E. A., Kirby, D. M., Tada, K., Hayasaka, K., Danks, D. M.
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<strong>Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia: observations on sisters with a mild T-protein defect.</strong>
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Europ. J. Pediat. 145: 267-270, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3769993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3769993</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3769993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00439398" target="_blank">Full Text</a>]
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Hayasaka, K., Tada, K., Kikuchi, G., Winter, S., Nyhan, W. L.
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<strong>Nonketotic hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system.</strong>
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Pediat. Res. 17: 967-970, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6336599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6336599</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6336599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1203/00006450-198312000-00008" target="_blank">Full Text</a>]
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Kure, S., Mandel, H., Rolland, M.-O., Sakata, Y., Shinka, T., Drugan, A., Boneh, A., Tada, K., Matsubara, Y., Narisawa, K.
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<strong>A missense mutation (his42arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.</strong>
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Hum. Genet. 102: 430-434, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600239</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9600239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Nanao, K., Okamura-Ikeda, K., Motokawa, Y., Danks, D. M., Baumgartner, E. R., Takada, G., Hayasaka, K.
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<strong>Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.</strong>
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Hum. Genet. 93: 655-658, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8005589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8005589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8005589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ada Hamosh : 05/26/2023
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carol : 11/04/2024<br>carol : 09/27/2023<br>carol : 05/31/2023
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<span class="mim-font">
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<strong>#</strong> 620398
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<h3>
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GLYCINE ENCEPHALOPATHY 2; GCE2
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<strong>DO:</strong> 0061001;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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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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<tbody>
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<span class="mim-font">
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3p21.31
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Glycine encephalopathy 2
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<span class="mim-font">
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620398
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Autosomal recessive
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<span class="mim-font">
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3
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AMT
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238310
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</table>
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because glycine encephalopathy-2 (GCE2) is caused by homozygous or compound heterozygous mutation in the AMT gene (238310), which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21.</p>
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<strong>Description</strong>
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<p>Glycine encephalopathy (GCE), also called nonketotic hyperglycinemia (NKH), is an inborn error of metabolism characterized by accumulation of a large amount of glycine in body fluids. Typical cases have severe neurologic features, including seizures, lethargy, and muscular hypotonia soon after birth, and most die with the neonatal period; atypical cases have later onset and less severe psychomotor development (summary by Nanao et al., 1994). </p><p>For a general description and a discussion of genetic heterogeneity of glycine encephalopathy, see GCE1 (605899).</p>
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<strong>Clinical Features</strong>
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<p>Hayasaka et al. (1983) studied the glycine cleavage system in the liver and brain obtained at autopsy in 2 male infants with the typical form of nonketotic hyperglycinemia. In the first infant a defect in the P protein was found; in the second, T protein was defective. The second infant appeared well at birth and nursed well the first day. He was hospitalized on the third day with 'lethargy, bordering on coma.' Despite ventilatory support, 7 exchange transfusions to lower blood glycine, and treatment with sodium benzoate and strychnine, he died on the twentieth day. T protein was undetectable in the brain and extremely low in liver. </p><p>Nanao et al. (1994) described patients with GCE caused by mutation in the AMT gene. Patient A was a 19-year-old girl, born of nonconsanguineous Italian parents, with typical GCE. She reportedly had an older affected sister who died at the age of 3 weeks after a classic clinical course. Patient B was a 9-year-old girl, born of nonconsanguineous parents, with atypical GCE. Her development was normal until her second year of life when developmental delay became apparent. Her deceased older sister also had atypical GCE. Patient B and her sister were previously reported by Haan et al. (1986) </p><p>Kure et al. (1998) reported 14 children with typical GCE in a consanguineous Israeli-Arab kindred. All of the patients had seizures and respiratory failure within 2 days after birth, and all had a mutation in the AMT gene. </p>
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<strong>Inheritance</strong>
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</h4>
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<span class="mim-text-font">
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<p>The transmission pattern of GCE2 in the families reported by Nanao et al. (1994) was consistent with autosomal recessive inheritance. </p>
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<h4>
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In a 19-year-old girl (patient A) with typical GCE2, Nanao et al. (1994) identified a homozygous missense mutation in the AMT gene (G269D; 238310.0001). Her parents and an unaffected sib were heterozygous for the mutation. In a 9-year-old girl (patient B) and her deceased sister with atypical GCE2, previously reported by Haan et al. (1986), Nanao et al. (1994) identified compound heterozygous mutations in the AMT gene (G47D, 238310.0002 and R320H, 238310.0006). </p><p>In 14 affected members of a consanguineous Israeli-Arab kindred with typical GCE2, Kure et al. (1998) identified a homozygous missense mutation in the AMT gene (H42R; 238310.0003). </p>
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<br />
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<ol>
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<li>
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<p class="mim-text-font">
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Haan, E. A., Kirby, D. M., Tada, K., Hayasaka, K., Danks, D. M.
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<strong>Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia: observations on sisters with a mild T-protein defect.</strong>
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Europ. J. Pediat. 145: 267-270, 1986.
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[PubMed: 3769993]
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[Full Text: https://doi.org/10.1007/BF00439398]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hayasaka, K., Tada, K., Kikuchi, G., Winter, S., Nyhan, W. L.
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<strong>Nonketotic hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system.</strong>
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Pediat. Res. 17: 967-970, 1983.
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[PubMed: 6336599]
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[Full Text: https://doi.org/10.1203/00006450-198312000-00008]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kure, S., Mandel, H., Rolland, M.-O., Sakata, Y., Shinka, T., Drugan, A., Boneh, A., Tada, K., Matsubara, Y., Narisawa, K.
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<strong>A missense mutation (his42arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.</strong>
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Hum. Genet. 102: 430-434, 1998.
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[PubMed: 9600239]
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[Full Text: https://doi.org/10.1007/s004390050716]
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<li>
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<p class="mim-text-font">
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Nanao, K., Okamura-Ikeda, K., Motokawa, Y., Danks, D. M., Baumgartner, E. R., Takada, G., Hayasaka, K.
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<strong>Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.</strong>
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Hum. Genet. 93: 655-658, 1994.
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[PubMed: 8005589]
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[Full Text: https://doi.org/10.1007/BF00201565]
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</p>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh : 05/26/2023
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<span class="mim-text-font">
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carol : 11/05/2024<br>carol : 11/04/2024<br>carol : 09/27/2023<br>carol : 05/31/2023
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