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Entry
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- #230400 - GALACTOSEMIA I; GALAC1
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- OMIM
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<p>
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<span class="h4">#230400</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/230400"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS230400"> <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="#heterogeneity">Heterogeneity</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#mapping">Mapping</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#populationGenetics">Population Genetics</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=GALACTOSEMIA I" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=355&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Galactosemia </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11265&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Classic galactosemia </a></div>
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</div>
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<div><a href="#mimGeneReviewsFold" id="mimGeneReviewsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling."><span id="mimGeneReviewsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Gene Reviews</div>
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<div id="mimGeneReviewsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1518/" title="Classic Galactosemia and Clinical Variant Galactosemia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Classic Galactosemia and C…</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK258640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Duarte Variant Galactosemia</a></div>
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</div>
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<div><a href="https://www.diseaseinfosearch.org/x/8206" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/galactosemia" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=230400[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimNewbornScreeningFold" id="mimNewbornScreeningToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Information and resources for newborn screening and genetics."><span id="mimNewbornScreeningToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Newborn Screening</div>
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<div id="mimNewbornScreeningFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.acmg.net//PDFLibrary/Classical-Galactosemia-ACT-Sheet.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG ACT Sheet</a></div><div style="margin-left: 0.5em;"><a href="https://www.acmg.net//PDFLibrary/GALT-Algorithm.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG Algorithm</a></div>
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</div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=352" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Galactosemia</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Classic galactosemia</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/fa6ca1c2-1978-4418-a8ec-da9c40083133/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111459" 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/230400" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001144/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111459" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:230400" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 124354006, 398664009<br />
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<strong>ORPHA:</strong> 352, 79239<br />
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<strong>DO:</strong> 0111459<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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230400
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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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GALACTOSEMIA I; GALAC1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY<br />
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GALT DEFICIENCY<br />
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GALACTOSEMIA, CLASSIC
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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|
Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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GALACTOSEMIA, DUARTE VARIANT, INCLUDED
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</span>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
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<th>
|
|
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>
|
|
Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/153?start=-3&limit=10&highlight=153">
|
|
9p13.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Galactosemia
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/230400"> 230400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
GALT
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606999"> 606999 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
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|
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</tbody>
|
|
</table>
|
|
</div>
|
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</div>
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|
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<div>
|
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|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/230400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS230400" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
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|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/230400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/230400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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|
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|
|
<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> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C1690964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1690964</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
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|
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|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> 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 /> -
|
|
Decreased liver function, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856613&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856613</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/77981007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">77981007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001410</a>]</span><br /> -
|
|
Cirrhosis if untreated <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856614&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856614</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vomiting <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422400008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422400008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300359004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300359004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249497008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249497008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span><br /> -
|
|
Diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ovarian failure due to hypergonadotropic hypogonadism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856611</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111550004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111550004</a>]</span><br />
|
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|
</span>
|
|
</div>
|
|
</div>
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</div>
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|
</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Mental retardation if untreated <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856609&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856609</a>]</span><br /> -
|
|
Speech abnormality if untreated <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806319&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806319</a>]</span><br />
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|
|
</span>
|
|
</div>
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</div>
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</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hemolytic anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61261009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61261009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D55-D59" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D55-D59</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002878</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001878</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001878</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
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|
|
</div>
|
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|
|
|
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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">
|
|
|
|
- Galactose-1-phosphate uridyltransferase deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398664009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398664009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124354006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124354006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268151&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268151</a>]</span><br /> -
|
|
In untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856615</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- High incidence of E. coli sepsis in untreated neonates<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in galactose-1-phosphate uridyltransferase gene (GALT, <a href="/entry/606999#0001">606999.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Galactosemia
|
|
- <a href="/phenotypicSeries/PS230400">PS230400</a>
|
|
- 4 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<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>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/279?start=-3&limit=10&highlight=279"> 1p36.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/230350"> Galactose epimerase deficiency </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/230350"> 230350 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606953"> GALE </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606953"> 606953 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/197?start=-3&limit=10&highlight=197"> 2p22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618881"> Galactosemia IV </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618881"> 618881 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137030"> GALM </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137030"> 137030 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/153?start=-3&limit=10&highlight=153"> 9p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/230400"> Galactosemia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/230400"> 230400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606999"> GALT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606999"> 606999 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/951?start=-3&limit=10&highlight=951"> 17q25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/230200"> Galactokinase deficiency with cataracts </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/230200"> 230200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604313"> GALK1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604313"> 604313 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
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<p>A number sign (#) is used with this entry because galactosemia I (GALAC1), or classic galactosemia, is caused by homozygous or compound heterozygous mutation in the galactose-1-phosphate uridylyltransferase gene (GALT; <a href="/entry/606999">606999</a>) on chromosome 9p13.</p>
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<p>Galactosemia I (GALAC1), or classic galactosemia, is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by <a href="#9" class="mim-tip-reference" title="Bosch, A. M. <strong>Classical galactosaemia revisited.</strong> J. Inherit. Metab. Dis. 29: 516-525, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16838075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16838075</a>] [<a href="https://doi.org/10.1007/s10545-006-0382-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16838075">Bosch, 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16838075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Galactosemia</em></strong></p><p>
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Also see galactosemia II (GALAC2; <a href="/entry/230200">230200</a>), caused by mutation in the GALK1 gene (<a href="/entry/604313">604313</a>), which encodes the first enzyme in the Leloir pathway, and galactosemia III (GALAC3; <a href="/entry/230350">230350</a>), caused by mutation in the GALE gene (<a href="/entry/606953">606953</a>), which encodes the third enzyme in the Leloir pathway.</p>
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<p>The first detailed description of galactosemia was given by <a href="#29" class="mim-tip-reference" title="Goppert, F. <strong>Galaktosurie nach Milchzuckergabe bei angeborenem, familiaerem chronischem Leberleiden.</strong> Klin. Wschr. 54: 473-477, 1917."None>Goppert (1917)</a>. The proband (A.G.) presented with large liver, icterus, failure to thrive, and urinary excretion of albumen and sugar. After exclusion of galactose from the diet, these signs and symptoms normalized. He was mentally retarded (developmental quotient of 14 months at 36 months of age). He tolerated sucrose, maltose, glucose, and fructose at doses of 2 g/kg, but after lactose or galactose there was dose-dependent galactosuria. His oldest brother had suffered from icterus and liver enlargement a few days after birth and had had a life-threatening bleed after ritual circumcision. He died after 6 weeks. At autopsy, a huge liver tumor was present (attributed to syphilis, although subsequent Wassermann reactions were negative), and the cause of his death was attributed to nephritis. His third sib, born somewhat prematurely, became icteric, and died after 4 weeks. <a href="#29" class="mim-tip-reference" title="Goppert, F. <strong>Galaktosurie nach Milchzuckergabe bei angeborenem, familiaerem chronischem Leberleiden.</strong> Klin. Wschr. 54: 473-477, 1917."None>Goppert (1917)</a> concluded that the patient was suffering from a familial liver disorder and that in such cases lactose must be replaced by another sugar, e.g., sucrose or maltose. Another early detailed description of galactosemia was given by <a href="#48" class="mim-tip-reference" title="Mason, H. H., Turner, M. E. <strong>Chronic galactosemia: report of case with studies on carbohydrates.</strong> Am. J. Dis. Child. 50: 359-374, 1935."None>Mason and Turner (1935)</a>. <a href="#60" class="mim-tip-reference" title="Segal, S. <strong>Disorders of galactose metabolism. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic Basis of Inherited Disease. (6th ed.)</strong> New York: McGraw-Hill (pub.) 1989. Pp. 453-480."None>Segal (1989)</a> presented a picture of a 30-year-old man diagnosed in infancy by <a href="#48" class="mim-tip-reference" title="Mason, H. H., Turner, M. E. <strong>Chronic galactosemia: report of case with studies on carbohydrates.</strong> Am. J. Dis. Child. 50: 359-374, 1935."None>Mason and Turner (1935)</a>.</p><p>Failure to thrive is the most common initial clinical symptom of galactosemia. Vomiting or diarrhea usually begins within a few days of milk ingestion. Jaundice of intrinsic liver disease may be accentuated by the severe hemolysis occurring in some patients. Cataracts have been observed within a few days of birth. These may be found only on slit-lamp examination and missed with an ophthalmoscope, since they consist of punctate lesions in the fetal lens nucleus (<a href="#34" class="mim-tip-reference" title="Holton, J. B., Walter, J. H., Tyfield, L. A. <strong>Galactosemia. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (7th ed.)</strong> New York: McGraw-Hill 2001. Pp. 1553-1587."None>Holton et al., 2001</a>). There appears to be a high frequency of neonatal death due to E. coli sepsis, with a fulminant course (<a href="#45" class="mim-tip-reference" title="Levy, H. L., Sepe, S. J., Shih, V. E., Vawter, G. F., Klein, J. O. <strong>Sepsis due to Escherichia coli in neonates with galactosemia.</strong> New Eng. J. Med. 297: 823-825, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/331112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">331112</a>] [<a href="https://doi.org/10.1056/NEJM197710132971510" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="331112">Levy et al., 1977</a>). <a href="#47" class="mim-tip-reference" title="Litchfield, W. J., Wells, W. W. <strong>Effect of galactose on free radical reactions of polymorphonuclear leukocytes.</strong> Arch. Biochem. Biophys. 188: 26-30, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/209746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">209746</a>] [<a href="https://doi.org/10.1016/0003-9861(78)90351-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="209746">Litchfield and Wells (1978)</a> suggested that this proneness to sepsis is due to inhibition of leukocyte bactericidal activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=209746+331112" 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="#56" class="mim-tip-reference" title="Ruiz, M., Jover, S., Armas, M., Duque, M. R., Santana, C., Giros, M. L., Boleda, M. D. <strong>Galactosaemia presenting as congenital pseudoafibrinogenaemia.</strong> J. Inherit. Metab. Dis. 22: 943-944, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10604151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10604151</a>] [<a href="https://doi.org/10.1023/a:1005660011709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10604151">Ruiz et al. (1999)</a> concluded that coagulopathy may be present in galactosemia with little evidence of liver disease (<a href="#44" class="mim-tip-reference" title="Levy, H. L., Brown, A. E., Williams, S. E., de Juan, E., Jr. <strong>Vitreous hemorrhage as an ophthalmic complication of galactosemia.</strong> J. Pediat. 129: 922-925, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8969739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8969739</a>] [<a href="https://doi.org/10.1016/s0022-3476(96)70041-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8969739">Levy et al., 1996</a>). They suggested, furthermore, that the association of jaundice and hemorrhagic diathesis in the first 2 weeks of life is a clinical presentation in which galactosemia must be considered. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8969739+10604151" 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>Pregnancy</em></strong></p><p>
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Ovarian failure in many affected girls (<a href="#38" class="mim-tip-reference" title="Kaufman, F., Kogut, M. D., Donnell, G. N., Koch, R., Goehelsmann, U. <strong>Ovarian failure in galactosaemia.</strong> Lancet 314: 737-738, 1979. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/90818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">90818</a>] [<a href="https://doi.org/10.1016/s0140-6736(79)90658-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="90818">Kaufman et al., 1979</a>) may indicate in utero damage from galactosemia. Pregnancy is rare in women with galactosemia because of the high frequency of hypergonadotropic hypogonadism with ovarian atrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=90818" 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="Harley, J. D., Irvine, S., Mutton, P., Gupta, J. D. <strong>Maternal enzymes of galactose metabolism and the 'inexplicable' infantile cataract.</strong> Lancet 304: 259-261, 1974. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4136146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4136146</a>] [<a href="https://doi.org/10.1016/s0140-6736(74)91417-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4136146">Harley et al. (1974)</a> found low levels (presumably indicative of the heterozygous state) of galactose-1-phosphate uridylyltransferase and galactokinase in mothers of children with otherwise unexplained infantile cataract. They suggested that a lactose load in combination with the low enzyme level leads to cataract. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4136146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Brivet, M., Raymond, J. P., Konopka, P., Odievre, M., Lemonnier, A. <strong>Effect of lactation in a mother with galactosemia.</strong> J. Pediat. 115: 280-282, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2754558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2754558</a>] [<a href="https://doi.org/10.1016/s0022-3476(89)80084-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2754558">Brivet et al. (1989)</a> described a 24-year-old woman homozygous for GALT deficiency who, despite strict galactose-free diet, suffered self-intoxication probably due to lactose biosynthesis while breastfeeding her baby. Lactosuria is a common finding in pregnant women because of lactose biosynthesis by the mammary glands beginning in the second trimester. <a href="#10" class="mim-tip-reference" title="Brivet, M., Migayron, F., Roger, J., Cheron, G., Lemonnier, A. <strong>Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia.</strong> J. Inherit. Metab. Dis. 12 (suppl. 2): 343-345, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2512439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2512439</a>] [<a href="https://doi.org/10.1007/BF03335417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2512439">Brivet et al. (1989)</a> described the development of cataracts in a healthy lactating 28-year-old woman heterozygous for GALT deficiency. <a href="#5" class="mim-tip-reference" title="Avisar, R. A., Schwartzman, S., Levinsky, H., Allalouf, D., Goldman, J., Ninio, A., Savir, H. <strong>A case of cataract formation during the lactating period associated with galactose-1-phosphate uridyltransferase deficiency.</strong> Metab. Pediat. Syst. Ophthal. 6: 45-48, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6290834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6290834</a>]" pmid="6290834">Avisar et al. (1982)</a> had likewise observed rapidly progressing cataract in a lactating heterozygote. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6290834+2754558+2512439" 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>Reports of 14 pregnancies in patients with galactosemia were noted by <a href="#75" class="mim-tip-reference" title="Waggoner, D. D., Buist, N. R. M., Donnell, G. N. <strong>Long-term prognosis in galactosaemia: results of a survey of 350 cases.</strong> J. Inherit. Metab. Dis. 13: 802-818, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1706789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1706789</a>] [<a href="https://doi.org/10.1007/BF01800204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1706789">Waggoner et al. (1990)</a>. <a href="#17" class="mim-tip-reference" title="de Jongh, S., Vreken, P., IJlst, L., Wanders, R. J. A., Jakobs, C., Bakker, H. D. <strong>Spontaneous pregnancy in a patient with classical galactosaemia.</strong> J. Inherit. Metab. Dis. 22: 754-755, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10472536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10472536</a>] [<a href="https://doi.org/10.1023/a:1005504403173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10472536">De Jongh et al. (1999)</a> reported a galactosemic woman who had an uncomplicated full-term pregnancy and produced a clinically normal infant. The diagnosis in the mother had been made when she was 2 weeks old, and she had been maintained on a lactose- and galactose-free diet. The pregnancy occurred at the age of 30 years. She had slight mental retardation (IQ, 85). She remained on a lactose- and galactose-free diet throughout her pregnancy. This patient was Caucasian; all but one of the previously reported patients were black and may not have had classic galactosemia. The mother in this case was found to be heterozygous for the common Q188R mutation (<a href="/entry/606999#0006">606999.0006</a>). Since no GALT activity was detected in erythrocytes, a mutation in the other allele was suspected but not found. The obligate heterozygous offspring of this woman had no apparent adverse effects of the maternal galactosemic state. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10472536+1706789" 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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With the several mutations that have been identified at the GALT locus, the tendency for clinical complications to develop varies from apparent clinical normality in the relatively common Duarte type to perhaps mild symptoms in the S135L variant and to the severe galactosemia syndrome in the 'classic,' Indiana, and Rennes variants (<a href="#30" class="mim-tip-reference" title="Hammersen, G., Houghton, S. A., Levy, H. L. <strong>Rennes-like variant of galactosemia: clinical and biochemical studies.</strong> J. Pediat. 87: 50-57, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1151546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1151546</a>] [<a href="https://doi.org/10.1016/s0022-3476(75)80067-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1151546">Hammersen et al., 1975</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1151546" 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="Beutler, E., Baluda, M. C., Sturgeon, P., Day, R. <strong>A new genetic abnormality resulting in galactose-1-phosphate uridyltransferase deficiency.</strong> Lancet 285: 353-354, 1965. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14246708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14246708</a>] [<a href="https://doi.org/10.1016/s0140-6736(65)91782-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14246708">Beutler et al. (1965)</a> suggested that some persons with intermediate levels of the enzyme are not heterozygotes for the usual galactosemia but rather are homozygotes for what they termed the 'Duarte' variant. Heterozygotes for this variant have about 75% normal activity. This new form was discovered in the course of a screening program. Patients with the Duarte variant of galactosemia are usually healthy, despite functional and structural abnormality in their galactose-1-phosphate uridylyltransferase. An 8-month-old boy who had jaundice and liver enlargement during the first 2 months was reported by <a href="#39" class="mim-tip-reference" title="Kelly, S., Desjardins, L., Khera, S. A. <strong>A Duarte variant with clinical signs.</strong> J. Med. Genet. 9: 129-131, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5063514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5063514</a>] [<a href="https://doi.org/10.1136/jmg.9.1.129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5063514">Kelly et al. (1972)</a>. He was homozygous for the Duarte variant. Both parents and 2 sisters were carriers. Surgical biopsy of the liver showed marked fatty infiltration, periportal fibrosis, and cirrhosis. His subsequent development was normal. Improvement, the authors suggested, may have been due to maturation of the enzyme. Two similar cases had been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14246708+5063514" 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>Using G for the allele causing classic galactosemia and D for the Duarte allele (N314D; <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2070074;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2070074</a>; <a href="/entry/606999#0005">606999.0005</a>), <a href="#18" class="mim-tip-reference" title="Elsas, L. J., Dembure, P. P., Langley, S., Paulk, E. M., Hjelm, L. N., Fridovich-Keil, J. <strong>A common mutation associated with the Duarte galactosemia allele.</strong> Am. J. Hum. Genet. 54: 1030-1036, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198125</a>]" pmid="8198125">Elsas et al. (1994)</a> proposed that the D/N, D/D, and D/G genotypes show approximately 75%, 50%, and 25% of normal GALT activity, respectively. The Duarte allele is associated with an isoform of the enzyme that has more acidic pI than normal. This variant, with decreased activity of GALT, is known as D2 (<a href="#34" class="mim-tip-reference" title="Holton, J. B., Walter, J. H., Tyfield, L. A. <strong>Galactosemia. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (7th ed.)</strong> New York: McGraw-Hill 2001. Pp. 1553-1587."None>Holton et al., 2001</a>). <a href="#43" class="mim-tip-reference" title="Langley, S. D., Lai, K., Dembure, P. P., Hjelm, L. N., Elsas, L. J. <strong>Molecular basis for Duarte and Los Angeles variant galactosemia.</strong> Am. J. Hum. Genet. 60: 366-372, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9012409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9012409</a>]" pmid="9012409">Langley et al. (1997)</a> noted that the homozygous Duarte phenotype is usually associated with approximately 50% of normal GALT enzyme activity, but sometimes the Duarte biochemical phenotype, as defined by a shift in its isozyme-banding pattern toward the anode on isoelectric focusing, is associated with increased GALT enzyme activity; this biochemical variant has been called the 'Los Angeles (LA) variant,' or 'D1' by <a href="#53" class="mim-tip-reference" title="Ng, W. G., Bergren, W. R., Donnell, G. N. <strong>A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.</strong> Ann. Hum. Genet. 37: 1-8, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4759900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4759900</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1973.tb01808.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4759900">Ng et al. (1973)</a> and others. The LA variant occurs when the N314D allele is in cis with L218L (652C-T; <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2070075;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2070075</a>; <a href="/entry/606999#0012">606999.0012</a>). Subsequently, <a href="#41" class="mim-tip-reference" title="Kozak, L., Francova, H., Pijackova, A., Peskovova, K., Martincova, O., Krijt, J. <strong>Presence of a deletion in the 5-prime upstream region of the GALT gene in Duarte (D2) alleles.</strong> J. Med. Genet. 36: 576-578, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10424825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10424825</a>]" pmid="10424825">Kozak et al. (1999)</a> showed that a 4-bp deletion (-119delGTCA; <a href="/entry/606999#0017">606999.0017</a>) in the 5-prime region of the GALT gene was linked with the Duarte allele and conferred reduced enzymatic activity. <a href="#13" class="mim-tip-reference" title="Carney, A. E., Sanders, R. D., Garza, K. R., McGaha, L. A., Bean, L. J. H., Coffee, B. W., Thomas, J. W., Cutler, D. J., Kurtkaya, N. L., Fridovich-Keil, J. L. <strong>Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.</strong> Hum. Molec. Genet. 18: 1624-1632, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19224951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19224951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19224951[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19224951">Carney et al. (2009)</a> showed that the 5-prime 4-bp deletion is the causal mutation in Duarte galactosemia and suggested that direct tests for this deletion could enhance or supplant current tests. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9012409+19224951+10424825+4759900+8198125" 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>Another type of galactosemia is associated with the S135L mutation (<a href="/entry/606999#0010">606999.0010</a>), previously called the 'Negro' variant. The difference in behavior of the metabolism of galactose in these patients may be due to the development of an alternative pathway (<a href="#14" class="mim-tip-reference" title="Cuatrecasas, P., Segal, S. <strong>Galactose conversion to d-xylulose: an alternate route of galactose metabolism.</strong> Science 153: 549-550, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5938779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5938779</a>] [<a href="https://doi.org/10.1126/science.153.3735.549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5938779">Cuatrecasas and Segal, 1966</a>). Other relevant observations on the S135L variant were reported by <a href="#6" class="mim-tip-reference" title="Baker, L., Mellman, W. J., Tedesco, T. A., Segal, S. <strong>Galactosemia: symptomatic and asymptomatic homozygotes in one Negro sibship.</strong> J. Pediat. 68: 551-558, 1966."None>Baker et al. (1966)</a>, <a href="#49" class="mim-tip-reference" title="Mellman, W. J., Tedesco, T. A., Baker, L. <strong>A new genetic abnormality. (Letter)</strong> Lancet 285: 1395-1396, 1965. Note: Originally Volume I."None>Mellman et al. (1965)</a>, and <a href="#35" class="mim-tip-reference" title="Hsia, D. Y.-Y. <strong>Clinical variants of galactosemia.</strong> Metabolism 16: 419-437, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5337683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5337683</a>] [<a href="https://doi.org/10.1016/0026-0495(67)90133-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5337683">Hsia (1967)</a>. <a href="#49" class="mim-tip-reference" title="Mellman, W. J., Tedesco, T. A., Baker, L. <strong>A new genetic abnormality. (Letter)</strong> Lancet 285: 1395-1396, 1965. Note: Originally Volume I."None>Mellman et al. (1965)</a> showed that heterozygous parents with the S135L variant show nearly normal enzyme levels in white cells, whereas classically galactosemic heterozygotes have about 50% activity in both red cells and white cells. Heterogeneity was demonstrated by the studies of <a href="#58" class="mim-tip-reference" title="Segal, S., Cuatrecasas, P. <strong>The oxidation of C(14) galactose by patients with congenital galactosemia: evidence for a direct oxidative pathway.</strong> Am. J. Med. 44: 340-347, 1968."None>Segal and Cuatrecasas (1968)</a>. Patients with the S135L mutation have a less severe phenotype (<a href="#17" class="mim-tip-reference" title="de Jongh, S., Vreken, P., IJlst, L., Wanders, R. J. A., Jakobs, C., Bakker, H. D. <strong>Spontaneous pregnancy in a patient with classical galactosaemia.</strong> J. Inherit. Metab. Dis. 22: 754-755, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10472536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10472536</a>] [<a href="https://doi.org/10.1023/a:1005504403173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10472536">De Jongh et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10472536+5337683+5938779" 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>On the basis of a screening of newborns in Massachusetts, <a href="#63" class="mim-tip-reference" title="Shih, V. E., Levy, H. L., Karolkewicz, V., Houghton, S., Efron, M. L., Isselbacher, K. J., Beutler, E., MacCready, R. A. <strong>Galactosemia screening of newborns in Massachusetts.</strong> New Eng. J. Med. 284: 753-757, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4926707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4926707</a>] [<a href="https://doi.org/10.1056/NEJM197104082841404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4926707">Shih et al. (1971)</a> found only 2 cases of galactosemia among 374,341 births. Both infants died with E. coli sepsis in the neonatal period. Since E. coli sepsis can be a presenting manifestation of galactosemia, results of the neonatal screening must be reported promptly to the clinician. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4926707" 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>Differential Diagnosis</em></strong></p><p>
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<a href="#27" class="mim-tip-reference" title="Gitzelmann, R., Arbenz, U. V., Willi, U. V. <strong>Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii.</strong> Europ. J. Pediat. 151: 564-568, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1505572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1505572</a>] [<a href="https://doi.org/10.1007/BF01957721" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1505572">Gitzelmann et al. (1992)</a> demonstrated that hypergalactosemia in the newborn with positive routine metabolic screening tests but with no evidence of enzyme deficiency and persistence of hypergalactosemia can be due to open ductus venosus Arantii, resulting in portacaval shunt. They concluded that color Doppler sonography is the method of choice for the diagnosis of an open duct; pulsed wave Doppler sonography was recommended for pathophysiologic characterization of splanchnic venous return. At age 3.5 years, their patient developed symptoms of portosystemic encephalopathy which progressed and was treated by protein restriction, oral lactulose and flumazenil, with some success. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1505572" 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>Long-term results of treatment have been disappointing; IQ is low in many despite early and seemingly adequate therapy. See, for example, the retrospective study by <a href="#57" class="mim-tip-reference" title="Schweitzer, S., Shin, Y., Jakobs, C., Brodehl, J. <strong>Long-term outcome in 134 patients with galactosaemia.</strong> Europ. J. Pediat. 152: 36-43, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8444204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8444204</a>] [<a href="https://doi.org/10.1007/BF02072514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8444204">Schweitzer et al. (1993)</a> of 134 galactosemic patients born between 1955 and 1989 in the Federal Republic of Germany. The cause of the unsatisfactory outcome of seemingly good control of galactose intake and the disturbances in long-term development despite treatment are unclear. Possibilities include chronic intoxication by galactose metabolites or deficiency of galactose-containing glycoproteins and/or glycolipids as a result of an overrestrictive galactose-free diet. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8444204" 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>An international survey of the long-term results of treating galactosemia in 350 cases yielded overall unsatisfactory results which could not be related to variables such as delayed diagnosis or poor dietary compliance (<a href="#75" class="mim-tip-reference" title="Waggoner, D. D., Buist, N. R. M., Donnell, G. N. <strong>Long-term prognosis in galactosaemia: results of a survey of 350 cases.</strong> J. Inherit. Metab. Dis. 13: 802-818, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1706789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1706789</a>] [<a href="https://doi.org/10.1007/BF01800204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1706789">Waggoner et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1706789" 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="#77" class="mim-tip-reference" title="Webb, A. L., Singh, R. H., Kennedy, M. J., Elsas, L. J. <strong>Verbal dyspraxia and galactosemia.</strong> Pediat. Res. 53: 396-402, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12595586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12595586</a>] [<a href="https://doi.org/10.1203/01.PDR.0000049666.19532.1B" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12595586">Webb et al. (2003)</a> noted that verbal dyspraxia (chaotic speech) is found in many children with classic galactosemia. They reported that a simplified breath test evaluating total body galactose oxidation is a sensitive predictor of verbal dyspraxia in patients with galactosemia. Of 24 patients who underwent a formal speech evaluation, 15 had verbal dyspraxia. Cumulative percentage dose (CUMPCD) values of 13CO(2) in breath less than 5% and mean erythrocyte galactose-1-phosphate values greater than 2.7 mg/dL were associated with dyspraxic outcome with odds ratios of 21 (95% CI, 1.68-265) and 13 (95% CI, 1.81-139), respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12595586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By gene dosage studies, <a href="#1" class="mim-tip-reference" title="Aitken, D. A., Ferguson-Smith, M. A. <strong>Intrachromosomal assignment of the structural gene for GALT to the short arm of chromosome 9 by gene dosage studies. (Abstract)</strong> Cytogenet. Cell Genet. 25: 131, 1979."None>Aitken and Ferguson-Smith (1979)</a> assigned the structural gene for GALT to the short arm of chromosome 9. Studying a family in which both the Los Angeles variant of GALT and a 9qh heterochromatin variant were segregating, <a href="#66" class="mim-tip-reference" title="Sparkes, R. S., Sparkes, M. C., Funderburk, S. J., Moedjono, S. <strong>Expression of galactose-1-P uridyltransferase in patients with chromosome alterations affecting 9p: assignment of the locus to p11-22. (Abstract)</strong> Cytogenet. Cell Genet. 25: 209, 1979."None>Sparkes et al. (1979)</a> concluded that the 2 are close together (maximal lod score 3.67 at theta of 0.0). Since GALT had previously been assigned to 9p, this finding suggested that GALT is near the centromere. Using different chromosomal aberrations involving 9p and dosage effects, <a href="#66" class="mim-tip-reference" title="Sparkes, R. S., Sparkes, M. C., Funderburk, S. J., Moedjono, S. <strong>Expression of galactose-1-P uridyltransferase in patients with chromosome alterations affecting 9p: assignment of the locus to p11-22. (Abstract)</strong> Cytogenet. Cell Genet. 25: 209, 1979."None>Sparkes et al. (1979)</a> assigned GALT to p11-p22. <a href="#50" class="mim-tip-reference" title="Mulcahy, M. T., Wilson, R. G. <strong>Where is the gene for GALT? (Letter)</strong> Hum. Genet. 54: 129-130, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6248448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6248448</a>] [<a href="https://doi.org/10.1007/BF00279064" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6248448">Mulcahy and Wilson (1980)</a> concluded that the GALT locus is probably in the segment 9p22-p13. <a href="#15" class="mim-tip-reference" title="Dagna Bricarelli, F., Magnani, M., Arslanian, A., Camera, G., Coviello, D. A., Di Pietro, P., Dallapiccola, B. <strong>Expression of GALT in two unrelated 9p- patients: evidence for assignment of the GALT locus to the 9p21 band.</strong> Hum. Genet. 59: 112-114, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6276288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6276288</a>] [<a href="https://doi.org/10.1007/BF00293057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6276288">Dagna Bricarelli et al. (1981)</a> studied quantitative expression of GALT and galactose utilization in 2 patients with 9p deletion. A patient with deletion of 9pter-p22 had normal values; a patient with deletion of 9p23-p133 had decrease in both values. The authors interpreted the findings as indicating location of the GALT locus in the 9p21 band. Shih et al. (<a href="#61" class="mim-tip-reference" title="Shih, L. Y., Rosin, I., Suslak, L., Searle, B., Desposito, F. <strong>Localization of the structural gene for galactose-1-phosphate uridyl transferase to band p13 of chromosome 9 by gene dosage studies. (Abstract)</strong> Am. J. Hum. Genet. 34: 62A, 1982."None>1982</a>, <a href="#62" class="mim-tip-reference" title="Shih, L. Y., Suslak, L., Rosin, I., Searle, B. M., Desposito, F. <strong>Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.</strong> Am. J. Med. Genet. 19: 539-543, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6095663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6095663</a>] [<a href="https://doi.org/10.1002/ajmg.1320190316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6095663">1984</a>) assigned the GALT locus to 9p13 by gene dosage. By deletion mapping, <a href="#40" class="mim-tip-reference" title="Kondo, I., Nakamura, N. <strong>Regional mapping of GALT in the short arm of chromosome 9. (Abstract)</strong> Cytogenet. Cell Genet. 37: 514, 1984."None>Kondo and Nakamura (1984)</a> corroborated the 9p13 localization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6276288+6095663+6248448" 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="#52" class="mim-tip-reference" title="Nadler, H. L., Chacko, C. M., Rachmeler, M. <strong>Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyltransferase activity.</strong> Proc. Nat. Acad. Sci. 67: 976-982, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5289034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5289034</a>] [<a href="https://doi.org/10.1073/pnas.67.2.976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5289034">Nadler et al. (1970)</a> found restoration of enzyme activity when cells from 2 patients with galactosemia were hybridized. They interpreted this as evidence of interallelic complementation. <a href="#69" class="mim-tip-reference" title="Tedesco, T. A., Mellman, W. J. <strong>Galactosemia: evidence for a structural gene mutation.</strong> Science 172: 727-728, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4995463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4995463</a>] [<a href="https://doi.org/10.1126/science.172.3984.727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4995463">Tedesco and Mellman (1971)</a> demonstrated that in galactosemia gal-1-P uridylyltransferase is immunologically intact although enzymatically defective; thus, a structural gene mutation is involved. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4995463+5289034" 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="#59" class="mim-tip-reference" title="Segal, S., Wehrli, S., Yager, C., Reynolds, R. <strong>Pathways of galactose metabolism by galactosemic: evidence for galactose conversion to hepatic UDPglucose.</strong> Molec. Genet. Metab. 87: 92-101, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16260165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16260165</a>] [<a href="https://doi.org/10.1016/j.ymgme.2005.09.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16260165">Segal et al. (2006)</a> performed a metabolic analysis of radiolabeled galactose administered to 3 galactosemic patients and 2 controls. The galactosemic patients formed labeled UDPglucose, implying that the classic galactosemic possesses residual GALT activity or some other pathway for forming UDPglucose from galactose. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16260165" 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="#25" class="mim-tip-reference" title="Feillet, F., Merten, M., Battaglia-Hsu, S.-F., Rabier, D., Kobayashi, K., Straczek, J., Brivet, M., Favre, E., Gueant, J.-L. <strong>Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.</strong> J. Hepatol. 48: 517-522, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18207281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18207281</a>] [<a href="https://doi.org/10.1016/j.jhep.2007.11.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18207281">Feillet et al. (2008)</a> reported a 7-week-old girl with liver failure, ascites, and generalized edema. Laboratory studies showed increased citrulline and increased levels of other amino acids, suggesting the diagnosis of citrin deficiency (<a href="/entry/605814">605814</a>). There were low levels of urinary citric acid cycle intermediates, and administration of citrate resulted in improvement in liver function. Introduction of oral galactose resulted in vomiting, galactose aversion, and hepatic dysfunction, consistent with classic galactosemia, and the diagnosis was confirmed by molecular analysis. <a href="#25" class="mim-tip-reference" title="Feillet, F., Merten, M., Battaglia-Hsu, S.-F., Rabier, D., Kobayashi, K., Straczek, J., Brivet, M., Favre, E., Gueant, J.-L. <strong>Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.</strong> J. Hepatol. 48: 517-522, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18207281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18207281</a>] [<a href="https://doi.org/10.1016/j.jhep.2007.11.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18207281">Feillet et al. (2008)</a> noted the unusual metabolic pattern in this patient and suggested that depletion of citric acid intermediates and resultant energy deprivation could play a role in the pathophysiology of liver disease seen in classic galactosemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18207281" 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="#19" class="mim-tip-reference" title="Elsas, L. J., II, Lai, K. <strong>The molecular biology of galactosemia.</strong> Genet. Med. 1: 40-48, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11261429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11261429</a>] [<a href="https://doi.org/10.1097/00125817-199811000-00009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11261429">Elsas and Lai (1998)</a> stated that more than 130 mutations in the GALT gene (<a href="/entry/606999">606999</a>) had been associated with GALT deficiency. Two common mutations, Q188R (<a href="/entry/606999#0006">606999.0006</a>) and K285N (<a href="/entry/606999#0013">606999.0013</a>), accounted for more than 70% of galactosemia-producing alleles in the white population and were associated with classic galactosemia and impaired GALT function. In the black population, S135L (<a href="/entry/606999#0010">606999.0010</a>) accounted for 62% of the alleles causing galactosemia and was associated with good outcomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11261429" 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="Elsas, L. J., Langley, S., Steele, E., Evinger, J., Fridovich-Keil, J. L., Brown, A., Singh, R., Fernhoff, P., Hjelm, L. N., Dembure, P. P. <strong>Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.</strong> Am. J. Hum. Genet. 56: 630-639, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887416</a>]" pmid="7887416">Elsas et al. (1995)</a> described a strategy for identifying new mutations in the GALT gene. A total of 12 new and 21 previously reported rare mutations were found. Among the novel group of 12 new mutations, an unusual biochemical phenotype was found in a family in which the newborn proband had classic galactosemia. From the father, he had inherited 2 mutations in cis: asn314 to asp (N314D; <a href="/entry/606999#0005">606999.0005</a>) and glu203 to lys (E203K; <a href="/entry/606999#0014">606999.0014</a>). From the mother, he had inherited a mutation in the splice acceptor site of intron C of the GALT gene. The GALT activity in erythrocytes of the father, who was heterozygous for the double mutation, was near normal. An asymptomatic sister showed compound heterozygosity for 3 mutations: E203K-N314D/N314D. Surprisingly, her erythrocytes had normal GALT activity. <a href="#20" class="mim-tip-reference" title="Elsas, L. J., Langley, S., Steele, E., Evinger, J., Fridovich-Keil, J. L., Brown, A., Singh, R., Fernhoff, P., Hjelm, L. N., Dembure, P. P. <strong>Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.</strong> Am. J. Hum. Genet. 56: 630-639, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887416</a>]" pmid="7887416">Elsas et al. (1995)</a> speculated that E203K and N314D codon changes produce intraallelic complementation when in cis. The E203K mutation was located in codon 7 and was the result of a GAG-to-AAG transition; the N314D mutation was in exon 10 and resulted from an AAC-to-GAC transition. The latter mutation is a frequent basis of the Duarte variant; the former was a new mutation found in this study. The chromosome with only one mutation, N314D, came from the proband's mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887416" 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>One of the fundamental questions concerning expression and function of dimeric enzymes involves impact of naturally occurring mutations on subunit assembly and heterodimer activity. The question is of particular interest for GALT, the enzyme deficient in galactosemia, because most patients are compound heterozygotes rather than true molecular homozygotes. Furthermore, the broad range of phenotypic severity observed in these patients raises the possibility that allelic combination, not just allelic constitution, may play some role in determining outcome. <a href="#22" class="mim-tip-reference" title="Elsevier, J. P., Wells, L., Quimby, B. B., Fridovich-Keil, J. L. <strong>Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.</strong> Proc. Nat. Acad. Sci. 93: 7166-7171, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8692963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8692963</a>] [<a href="https://doi.org/10.1073/pnas.93.14.7166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8692963">Elsevier et al. (1996)</a> studied the Q188R (<a href="/entry/606999#0006">606999.0006</a>) and R333W mutations to determine the impact of them on subunit assembly and the activity of heterodimers if formed. In a yeast system, they found that both homodimers and heterodimers formed involving each of the mutant subunits tested, and that both heterodimer pools retained substantial enzymatic activity. The yeast system they described was promoted as a model for similar studies of other complexes composed of multiple subunits. The experiments of <a href="#22" class="mim-tip-reference" title="Elsevier, J. P., Wells, L., Quimby, B. B., Fridovich-Keil, J. L. <strong>Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.</strong> Proc. Nat. Acad. Sci. 93: 7166-7171, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8692963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8692963</a>] [<a href="https://doi.org/10.1073/pnas.93.14.7166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8692963">Elsevier et al. (1996)</a> addressed at the molecular level the issue of functional interaction of subunits studied by <a href="#52" class="mim-tip-reference" title="Nadler, H. L., Chacko, C. M., Rachmeler, M. <strong>Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyltransferase activity.</strong> Proc. Nat. Acad. Sci. 67: 976-982, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5289034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5289034</a>] [<a href="https://doi.org/10.1073/pnas.67.2.976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5289034">Nadler et al. (1970)</a> when they demonstrated interallelic complementation of naturally occurring mutant GALT enzymes in hybrid cells derived by pairwise fusion of skin fibroblasts from 7 galactosemic patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8692963+5289034" 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><strong><em>Classic Galactosemia</em></strong></p><p>
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Data on gene frequencies of allelic variants were tabulated by <a href="#55" class="mim-tip-reference" title="Roychoudhury, A. K., Nei, M. <strong>Human Polymorphic Genes: World Distribution.</strong> New York: Oxford Univ. Press (pub.) 1988."None>Roychoudhury and Nei (1988)</a>. <a href="#72" class="mim-tip-reference" title="Tyfield, L., Reichardt, J., Fridovich-Keil, J., Croke, D. T., Elsas, L. J., II, Strobl, W., Kozak, L., Coskun, T., Novelli, G., Okano, Y., Zekanowski, C., Shin, Y., Boleda, M. D. <strong>Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.</strong> Hum. Mutat. 13: 417-430, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10408771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10408771</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:6<417::AID-HUMU1>3.0.CO;2-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10408771">Tyfield et al. (1999)</a> stated that by the end of 1998 more than 150 different base changes in the GALT gene were recorded in 24 different populations and ethnic groups of 15 countries worldwide. <a href="#68" class="mim-tip-reference" title="Suzuki, M., West, C., Beutler, E. <strong>Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.</strong> Hum. Genet. 109: 210-215, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511927</a>] [<a href="https://doi.org/10.1007/s004390100552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511927">Suzuki et al. (2001)</a> estimated that the birth incidence of classic galactosemia is 1 per 47,000 in the white population. In Japan, classic galactosemia is thought to be only one-twentieth as frequent as it is in Caucasian populations of the United States (<a href="#4" class="mim-tip-reference" title="Ashino, J., Okano, Y., Suyama, I., Yamazaki, T., Yoshino, M., Furuyama, J.-I., Lin, H.-C., Reichardt, J. K. V., Isshiki, G. <strong>Molecular characterization of galactosemia (type 1) mutations in Japanese.</strong> Hum. Mutat. 6: 36-43, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550229</a>] [<a href="https://doi.org/10.1002/humu.1380060108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550229">Ashino et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10408771+11511927+7550229" 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="#51" class="mim-tip-reference" title="Murphy, M., McHugh, B., Tighe, O., Mayne, P., O'Neill, C., Naughten, E., Croke, D. T. <strong>Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.</strong> Europ. J. Hum. Genet. 7: 549-554, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10439960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10439960</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10439960">Murphy et al. (1999)</a> estimated the incidence of classic transferase-deficient galactosemia in Ireland and determined the underlying GALT mutation spectrum in the Irish population and in the Traveller group (an endogamous group of commercial/industrial nomads within the Irish population). Based on a survey of newborn screening records, the incidence of classic transferase-deficient galactosemia was estimated to be 1 in 480 and 1 in 30,000 among Traveller and non-Traveller communities, respectively. Fifty-six classic galactosemic patients were screened for mutations in the GALT gene. Q188R was the sole mutant allele among the Travellers, as well as being the most frequent mutant allele among the non-Travellers (89.1%). Of the 5 non-Q188R mutant alleles in the non-Traveller group, one was R333G (<a href="/entry/606999#0015">606999.0015</a>) and one was F194L (<a href="/entry/606999#0016">606999.0016</a>), with 3 remaining uncharacterized. Anonymous population screening had shown the Q188R carrier frequency to be 0.092 or 1 in 11 among the Travellers, as compared with 0.009 or 1 in 107 among the non-Travellers. The Q188R mutation was shown to be in linkage disequilibrium with a SacI RFLP flanking exon 6 of the GALT gene. <a href="#46" class="mim-tip-reference" title="Lin, H. C., Reichardt, J. K. V. <strong>Linkage disequilibrium between a SacI restriction length fragment polymorphism and two galactosemia mutations.</strong> Hum. Genet. 95: 353-355, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7868133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7868133</a>] [<a href="https://doi.org/10.1007/BF00225208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7868133">Lin and Reichardt (1995)</a> demonstrated that the Q188R mutation is in linkage disequilibrium with the SacI RFLP in African American, Asian, Caucasian, and Latino galactosemic patients. This was interpreted to indicate that the Q188R mutation arose once in the history of the modern human population and was spread worldwide by demic diffusion. The same disequilibrium in the Irish population suggested that the Q188R mutation was present in the indigenous population before the Travellers separated and was carried into the Traveller population by its founders. The findings suggested, furthermore, that the modern Traveller subpopulation in Ireland had an endogenous origin. The high frequency of the Q188R allele appears to be due to founder effect coupled with rapid expansion of this population. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7868133+10439960" 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>Duarte-1 and Duarte-2 Alleles</em></strong></p><p>
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<a href="#74" class="mim-tip-reference" title="Vaccaro, A. M., Mandara, I., Muscillo, M., Ciaffoni, F., De Pellegrin, S., Benincasa, A., Novelletto, A., Terrenato, L. <strong>Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.</strong> Hum. Hered. 34: 197-206, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6090305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6090305</a>] [<a href="https://doi.org/10.1159/000153463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6090305">Vaccaro et al. (1984)</a> studied the frequency of the Duarte (D2) and Los Angeles (D1) variants of red cell gal-1-P uridylyltransferase in Italy; the 2 have similar electrophoretic patterns but the enzyme activity in heterozygotes is about half normal in the former and about 1.5 times normal in the latter. No apparent clinical abnormality accompanies either. The allele frequencies were: N = 0.9192; G (for galactosemia) = 0.0036; D (for Duarte) = 0.0372 and LA (for Los Angeles) = 0.0400. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6090305" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Carney, A. E., Sanders, R. D., Garza, K. R., McGaha, L. A., Bean, L. J. H., Coffee, B. W., Thomas, J. W., Cutler, D. J., Kurtkaya, N. L., Fridovich-Keil, J. L. <strong>Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.</strong> Hum. Molec. Genet. 18: 1624-1632, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19224951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19224951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19224951[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19224951">Carney et al. (2009)</a> reported that the frequency of the D314 allele (<a href="/entry/606999#0005">606999.0005</a>) in the CEPH HapMap sample is 11.3%, which is unusually high compared with Yoruba, Chinese, and Japanese populations, which each exhibit frequencies of D314 well under 3%. The frequency of the TTA(Leu) codon (<a href="/entry/606999#0012">606999.0012</a>) accounted for 4.5% of alleles in the CEPH sample, whereas the frequency is even rarer in non-European populations, with an observed frequency of about 1% in the Chinese sample and a complete absence in the Yoruba and Japanese samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19224951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Carney, A. E., Sanders, R. D., Garza, K. R., McGaha, L. A., Bean, L. J. H., Coffee, B. W., Thomas, J. W., Cutler, D. J., Kurtkaya, N. L., Fridovich-Keil, J. L. <strong>Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.</strong> Hum. Molec. Genet. 18: 1624-1632, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19224951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19224951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19224951[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19224951">Carney et al. (2009)</a> noted that Duarte galactosemia has an incidence as high as 1 in 4,000 live births. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19224951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Andersen1983" class="mim-tip-reference" title="Andersen, M. W., Williams, V. P., Helmer, G. R., Jr., Fried, C., Popak, G. <strong>Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.</strong> Arch. Biochem. Biophys. 222: 326-331, 1983.">Andersen et al. (1983)</a>; <a href="#Andersen1984" class="mim-tip-reference" title="Andersen, M. W., Williams, V. P., Sparkes, M. C., Sparkes, R. S. <strong>Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants.</strong> Hum. Genet. 65: 287-290, 1984.">Andersen et al. (1984)</a>; <a href="#Benson1979" class="mim-tip-reference" title="Benson, P. F., Brandt, N. J., Christensen, E. <strong>Prenatal diagnosis of galactosaemia in six pregnancies--possible complications with rare alleles of the galactose-1-phosphate uridyltransferase locus.</strong> Clin. Genet. 16: 311-316, 1979.">Benson et al. (1979)</a>; <a href="#Bruns1978" class="mim-tip-reference" title="Bruns, G. A. P., Leary, A. C., Eisenman, R. E., Bazinet, C. W., Regina, V. M., Gerald, P. S. <strong>Expression of ACON-S and GALT in man-rodent somatic cell hybrids.</strong> Cytogenet. Cell Genet. 22: 172-176, 1978.">Bruns et al. (1978)</a>; <a href="#Dawson1960" class="mim-tip-reference" title="Dawson, S. P., Hickman, R. O., Kelley, V. C. <strong>Galactosemia: a genetic study of four generations by enzyme assay.</strong> Am. J. Dis. Child. 100: 69-73, 1960.">Dawson et al. (1960)</a>; <a href="#Elsevier1996" class="mim-tip-reference" title="Elsevier, J. P., Wells, L., Quimby, B. B., Fridovich-Keil, J. L. <strong>Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.</strong> Proc. Nat. Acad. Sci. 93: 7166-7171, 1996.">Elsevier and
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Fridovich-Keil (1996)</a>; <a href="#Eriksen1980" class="mim-tip-reference" title="Eriksen, B., Dissing, J. <strong>Human red cell galactose-1-phosphate uridyltransferase (EC 2.7.7.12): electrophoretically determined polymorphism in Denmark and its use in paternity cases.</strong> Hum. Hered. 30: 27-32, 1980.">Eriksen and Dissing (1980)</a>; <a href="#Eydoux1981" class="mim-tip-reference" title="Eydoux, P., Junien, C., Despoisse, S., Chassevent, J., Bibring, C., Gregori, C. <strong>Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.</strong> Hum. Genet. 57: 142-144, 1981.">Eydoux et al.
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(1981)</a>; <a href="#Garcia-Cruz1982" class="mim-tip-reference" title="Garcia-Cruz, D., Vaca, G., Ibarra, B., Sanchez-Corona, J., Ocampo-Campos, R., Peregrina, S., Moller, M., Rivera, H., Rivas, F., Gonzalez-Angulo, A., Cantu, J. M. <strong>Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.</strong> Ann. Genet. 25: 237-242, 1982.">Garcia-Cruz et al. (1982)</a>; <a href="#Gitzelmann1967" class="mim-tip-reference" title="Gitzelmann, R., Poley, J. R., Prader, A. <strong>Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.</strong> Helv. Paediat. Acta 22: 252-257, 1967.">Gitzelmann et al. (1967)</a>; <a href="#Haschemian1972" class="mim-tip-reference" title="Haschemian, G., Menne, F. <strong>Beobachtungen einer Familie mit Galaktosaemie 'Duarte-variante'.</strong> Humangenetik 15: 223-226, 1972.">Haschemian and Menne (1972)</a>; <a href="#Hill1973" class="mim-tip-reference" title="Hill, H. Z., Puck, T. T. <strong>Detection of inborn errors of metabolism: galactosemia.</strong> Science 179: 1136-1139, 1973.">Hill and Puck (1973)</a>; <a href="#Hsia1969" class="mim-tip-reference" title="Hsia, D. Y.-Y. <strong>Galactosemia. Conference 1967.</strong> Springfield, Ill.: Charles C Thomas (pub.) 1969.">Hsia (1969)</a>; <a href="#Ibarra1979" class="mim-tip-reference" title="Ibarra, B., Vaca, G., Sanchez-Corona, J., Hernandez, A., Ramirez, M. L., Cantu, J. M. <strong>Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family.</strong> Hum. Genet. 48: 121-124, 1979.">Ibarra et al. (1979)</a>; <a href="#Lang1980" class="mim-tip-reference" title="Lang, A., Groebe, H., Hellkuhl, B., Von Figura, K. <strong>A new variant of galactosemia: galactose-1-phosphate uridyltransferase sensitive to product inhibition by glucose-1-phosphate.</strong> Pediat. Res. 14: 729-734, 1980.">Lang et al. (1980)</a>; <a href="#Robinson1984" class="mim-tip-reference" title="Robinson, A. C. R., Dockeray, C. J., Cullen, M. J., Sweeney, E. C. <strong>Hypergonadotrophic hypogonadism in classical galactosaemia: evidence for defective oogenesis: case report.</strong> Brit. J. Obstet. Gynaec. 91: 199-200, 1984.">Robinson et al. (1984)</a>; <a href="#Sparkes1968" class="mim-tip-reference" title="Sparkes, R. S., Beutler, E., Wright, S. W. <strong>Galactosemia in a 24-year-old man; detection by enzyme studies.</strong> Am. J. Ment. Defic. 72: 590-593, 1968.">Sparkes et al. (1968)</a>; <a href="#Sparkes1980" class="mim-tip-reference" title="Sparkes, R. S., Epstein, P. A., Kidd, K. K., Klisak, I., Sparkes, M. C., Crist, M., Morton, L. A. <strong>Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.</strong> Am. J. Hum. Genet. 32: 188-193, 1980.">Sparkes et al. (1980)</a>; <a href="#Sun1974" class="mim-tip-reference" title="Sun, N. C., Chang, C. C., Chu, E. H. Y. <strong>Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.</strong> Proc. Nat. Acad. Sci. 71: 404-407, 1974.">Sun et al. (1974)</a>; <a href="#Tedesco1979" class="mim-tip-reference" title="Tedesco, T. A., Miller, K. L. <strong>Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.</strong> Science 205: 1395-1397, 1979.">Tedesco and Miller (1979)</a>; <a href="#Tedesco1975" class="mim-tip-reference" title="Tedesco, T. A., Wu, J. W., Boches, F. S., Mellman, W. J. <strong>The genetic defect in galactosemia.</strong> New Eng. J. Med. 292: 737-740, 1975.">Tedesco et al. (1975)</a>; <a href="#Urbanowski1982" class="mim-tip-reference" title="Urbanowski, J. C., Cohenford, M. A., Levy, H. L., Crawford, J. D., Dain, J. A. <strong>Nonenzymatically galactosylated serum albumin in a galactosemic infant.</strong> New Eng. J. Med. 306: 84-86, 1982.">Urbanowski et al.
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(1982)</a>; <a href="#Walker1962" class="mim-tip-reference" title="Walker, F. A., Hsia, D. Y.-Y., Slatis, H. M., Steinberg, A. G. <strong>Galactosemia: a study of twenty-seven kindreds in North America.</strong> Ann. Hum. Genet. 25: 287-311, 1962.">Walker et al. (1962)</a>; <a href="#Wharton1978" class="mim-tip-reference" title="Wharton, C. H., Berry, H. K., Bofinger, M. K. <strong>Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote.</strong> Clin. Genet. 13: 171-175, 1978.">Wharton et al. (1978)</a>; <a href="#Xu1983" class="mim-tip-reference" title="Xu, Y.-K., Ng, W. G. <strong>Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.</strong> Hum. Genet. 63: 280-282, 1983.">Xu and Ng (1983)</a>
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Aitken, D. A., Ferguson-Smith, M. A.
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<strong>Intrachromosomal assignment of the structural gene for GALT to the short arm of chromosome 9 by gene dosage studies. (Abstract)</strong>
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Cytogenet. Cell Genet. 25: 131, 1979.
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Andersen, M. W., Williams, V. P., Helmer, G. R., Jr., Fried, C., Popak, G.
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<strong>Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.</strong>
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Arch. Biochem. Biophys. 222: 326-331, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6340612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6340612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6340612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0003-9861(83)90530-1" target="_blank">Full Text</a>]
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Andersen, M. W., Williams, V. P., Sparkes, M. C., Sparkes, R. S.
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<strong>Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants.</strong>
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Hum. Genet. 65: 287-290, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6321325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6321325</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6321325" 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/BF00286519" target="_blank">Full Text</a>]
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Ashino, J., Okano, Y., Suyama, I., Yamazaki, T., Yoshino, M., Furuyama, J.-I., Lin, H.-C., Reichardt, J. K. V., Isshiki, G.
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<strong>Molecular characterization of galactosemia (type 1) mutations in Japanese.</strong>
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Hum. Mutat. 6: 36-43, 1995.
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[<a href="https://doi.org/10.1016/s0140-6736(65)91782-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF03335417" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(89)80084-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000130929" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.153.3735.549" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.93.14.7166" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000153084" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00282010" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.jhep.2007.11.016" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(74)91417-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.179.4078.1136" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00273284" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(79)90658-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320190316" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM197104082841404" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.71.2.404" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004390100552" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.172.3984.727" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.472754" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM197504032921408" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10408771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10408771</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10408771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:6<417::AID-HUMU1>3.0.CO;2-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM198201143060207" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000153463" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01800204" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1962.tb01767.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1203/01.PDR.0000049666.19532.1B" target="_blank">Full Text</a>]
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Wharton, C. H., Berry, H. K., Bofinger, M. K.
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[<a href="https://doi.org/10.1111/j.1399-0004.1978.tb04247.x" target="_blank">Full Text</a>]
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Xu, Y.-K., Ng, W. G.
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<strong>Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.</strong>
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[<a href="https://doi.org/10.1007/BF00284664" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 7/19/2011
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George E. Tiller - updated : 6/4/2010<br>Marla J. F. O'Neill - updated : 2/16/2010<br>Natalie E. Krasikov - updated : 12/16/2003<br>Cassandra L. Kniffin - reorganized : 6/7/2002<br>Victor A. McKusick - updated : 10/9/2001<br>Victor A. McKusick - updated : 9/5/2001<br>Ada Hamosh - updated : 9/25/2000<br>Victor A. McKusick - updated : 12/21/1999<br>Victor A. McKusick - updated : 10/6/1999<br>Victor A. McKusick - updated : 9/8/1999<br>Victor A. McKusick - updated : 7/6/1999<br>Victor A. McKusick - updated : 5/14/1999<br>Victor A. McKusick - edited : 1/29/1998<br>Victor A. McKusick - updated : 9/19/1997<br>Victor A. McKusick - updated : 4/1/1997<br>Victor A. McKusick - updated : 2/17/1997<br>Victor A. McKusick - updated : 2/6/1997<br>Orest Hurko - updated : 5/14/1996
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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alopez : 03/11/2022
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carol : 03/10/2022<br>carol : 05/14/2020<br>carol : 04/27/2020<br>carol : 09/09/2016<br>carol : 07/06/2016<br>joanna : 7/5/2016<br>carol : 9/30/2011<br>wwang : 7/27/2011<br>ckniffin : 7/19/2011<br>wwang : 6/4/2010<br>wwang : 2/16/2010<br>wwang : 2/16/2010<br>terry : 2/27/2009<br>joanna : 2/2/2009<br>terry : 11/15/2006<br>terry : 5/17/2005<br>carol : 12/16/2003<br>ckniffin : 6/10/2002<br>carol : 6/7/2002<br>carol : 6/7/2002<br>carol : 6/7/2002<br>ckniffin : 6/7/2002<br>ckniffin : 6/5/2002<br>terry : 3/8/2002<br>carol : 11/14/2001<br>mcapotos : 10/24/2001<br>terry : 10/9/2001<br>terry : 9/5/2001<br>alopez : 3/12/2001<br>terry : 10/6/2000<br>alopez : 10/3/2000<br>terry : 9/25/2000<br>carol : 1/3/2000<br>mcapotos : 1/3/2000<br>terry : 12/21/1999<br>alopez : 11/22/1999<br>carol : 10/6/1999<br>carol : 10/4/1999<br>carol : 9/22/1999<br>jlewis : 9/16/1999<br>terry : 9/8/1999<br>carol : 8/3/1999<br>carol : 7/19/1999<br>terry : 7/6/1999<br>terry : 6/11/1999<br>mgross : 6/1/1999<br>carol : 6/1/1999<br>mgross : 5/26/1999<br>terry : 5/14/1999<br>dkim : 9/11/1998<br>dkim : 7/24/1998<br>mark : 1/29/1998<br>mark : 9/23/1997<br>terry : 9/19/1997<br>alopez : 6/23/1997<br>jenny : 4/1/1997<br>terry : 3/21/1997<br>mark : 2/17/1997<br>terry : 2/10/1997<br>terry : 2/6/1997<br>terry : 2/6/1997<br>terry : 2/5/1997<br>terry : 11/12/1996<br>terry : 11/1/1996<br>terry : 5/17/1996<br>terry : 5/14/1996<br>terry : 3/26/1996<br>mark : 3/21/1996<br>terry : 3/8/1996<br>terry : 8/3/1995<br>mark : 3/29/1995<br>davew : 8/19/1994<br>jason : 6/15/1994<br>warfield : 3/30/1994<br>carol : 2/24/1994
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<span class="mim-font">
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<strong>#</strong> 230400
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<h3>
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GALACTOSEMIA I; GALAC1
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<em>Alternative titles; symbols</em>
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GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY<br />
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GALT DEFICIENCY<br />
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GALACTOSEMIA, CLASSIC
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<span class="mim-font">
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Other entities represented in this entry:
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<span class="h3 mim-font">
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GALACTOSEMIA, DUARTE VARIANT, INCLUDED
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<strong>SNOMEDCT:</strong> 124354006, 398664009;
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<strong>ORPHA:</strong> 352, 79239;
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<strong>DO:</strong> 0111459;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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9p13.3
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<span class="mim-font">
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Galactosemia
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<span class="mim-font">
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230400
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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GALT
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<span class="mim-font">
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606999
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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 galactosemia I (GALAC1), or classic galactosemia, is caused by homozygous or compound heterozygous mutation in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Galactosemia I (GALAC1), or classic galactosemia, is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006). </p><p><strong><em>Genetic Heterogeneity of Galactosemia</em></strong></p><p>
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Also see galactosemia II (GALAC2; 230200), caused by mutation in the GALK1 gene (604313), which encodes the first enzyme in the Leloir pathway, and galactosemia III (GALAC3; 230350), caused by mutation in the GALE gene (606953), which encodes the third enzyme in the Leloir pathway.</p>
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<strong>Clinical Features</strong>
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<p>The first detailed description of galactosemia was given by Goppert (1917). The proband (A.G.) presented with large liver, icterus, failure to thrive, and urinary excretion of albumen and sugar. After exclusion of galactose from the diet, these signs and symptoms normalized. He was mentally retarded (developmental quotient of 14 months at 36 months of age). He tolerated sucrose, maltose, glucose, and fructose at doses of 2 g/kg, but after lactose or galactose there was dose-dependent galactosuria. His oldest brother had suffered from icterus and liver enlargement a few days after birth and had had a life-threatening bleed after ritual circumcision. He died after 6 weeks. At autopsy, a huge liver tumor was present (attributed to syphilis, although subsequent Wassermann reactions were negative), and the cause of his death was attributed to nephritis. His third sib, born somewhat prematurely, became icteric, and died after 4 weeks. Goppert (1917) concluded that the patient was suffering from a familial liver disorder and that in such cases lactose must be replaced by another sugar, e.g., sucrose or maltose. Another early detailed description of galactosemia was given by Mason and Turner (1935). Segal (1989) presented a picture of a 30-year-old man diagnosed in infancy by Mason and Turner (1935).</p><p>Failure to thrive is the most common initial clinical symptom of galactosemia. Vomiting or diarrhea usually begins within a few days of milk ingestion. Jaundice of intrinsic liver disease may be accentuated by the severe hemolysis occurring in some patients. Cataracts have been observed within a few days of birth. These may be found only on slit-lamp examination and missed with an ophthalmoscope, since they consist of punctate lesions in the fetal lens nucleus (Holton et al., 2001). There appears to be a high frequency of neonatal death due to E. coli sepsis, with a fulminant course (Levy et al., 1977). Litchfield and Wells (1978) suggested that this proneness to sepsis is due to inhibition of leukocyte bactericidal activity. </p><p>Ruiz et al. (1999) concluded that coagulopathy may be present in galactosemia with little evidence of liver disease (Levy et al., 1996). They suggested, furthermore, that the association of jaundice and hemorrhagic diathesis in the first 2 weeks of life is a clinical presentation in which galactosemia must be considered. </p><p><strong><em>Pregnancy</em></strong></p><p>
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Ovarian failure in many affected girls (Kaufman et al., 1979) may indicate in utero damage from galactosemia. Pregnancy is rare in women with galactosemia because of the high frequency of hypergonadotropic hypogonadism with ovarian atrophy. </p><p>Harley et al. (1974) found low levels (presumably indicative of the heterozygous state) of galactose-1-phosphate uridylyltransferase and galactokinase in mothers of children with otherwise unexplained infantile cataract. They suggested that a lactose load in combination with the low enzyme level leads to cataract. </p><p>Brivet et al. (1989) described a 24-year-old woman homozygous for GALT deficiency who, despite strict galactose-free diet, suffered self-intoxication probably due to lactose biosynthesis while breastfeeding her baby. Lactosuria is a common finding in pregnant women because of lactose biosynthesis by the mammary glands beginning in the second trimester. Brivet et al. (1989) described the development of cataracts in a healthy lactating 28-year-old woman heterozygous for GALT deficiency. Avisar et al. (1982) had likewise observed rapidly progressing cataract in a lactating heterozygote. </p><p>Reports of 14 pregnancies in patients with galactosemia were noted by Waggoner et al. (1990). De Jongh et al. (1999) reported a galactosemic woman who had an uncomplicated full-term pregnancy and produced a clinically normal infant. The diagnosis in the mother had been made when she was 2 weeks old, and she had been maintained on a lactose- and galactose-free diet. The pregnancy occurred at the age of 30 years. She had slight mental retardation (IQ, 85). She remained on a lactose- and galactose-free diet throughout her pregnancy. This patient was Caucasian; all but one of the previously reported patients were black and may not have had classic galactosemia. The mother in this case was found to be heterozygous for the common Q188R mutation (606999.0006). Since no GALT activity was detected in erythrocytes, a mutation in the other allele was suspected but not found. The obligate heterozygous offspring of this woman had no apparent adverse effects of the maternal galactosemic state. </p>
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<span class="mim-font">
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<strong>Heterogeneity</strong>
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<p><strong><em>Clinical Heterogeneity</em></strong></p><p>
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With the several mutations that have been identified at the GALT locus, the tendency for clinical complications to develop varies from apparent clinical normality in the relatively common Duarte type to perhaps mild symptoms in the S135L variant and to the severe galactosemia syndrome in the 'classic,' Indiana, and Rennes variants (Hammersen et al., 1975). </p><p>Beutler et al. (1965) suggested that some persons with intermediate levels of the enzyme are not heterozygotes for the usual galactosemia but rather are homozygotes for what they termed the 'Duarte' variant. Heterozygotes for this variant have about 75% normal activity. This new form was discovered in the course of a screening program. Patients with the Duarte variant of galactosemia are usually healthy, despite functional and structural abnormality in their galactose-1-phosphate uridylyltransferase. An 8-month-old boy who had jaundice and liver enlargement during the first 2 months was reported by Kelly et al. (1972). He was homozygous for the Duarte variant. Both parents and 2 sisters were carriers. Surgical biopsy of the liver showed marked fatty infiltration, periportal fibrosis, and cirrhosis. His subsequent development was normal. Improvement, the authors suggested, may have been due to maturation of the enzyme. Two similar cases had been reported. </p><p>Using G for the allele causing classic galactosemia and D for the Duarte allele (N314D; rs2070074; 606999.0005), Elsas et al. (1994) proposed that the D/N, D/D, and D/G genotypes show approximately 75%, 50%, and 25% of normal GALT activity, respectively. The Duarte allele is associated with an isoform of the enzyme that has more acidic pI than normal. This variant, with decreased activity of GALT, is known as D2 (Holton et al., 2001). Langley et al. (1997) noted that the homozygous Duarte phenotype is usually associated with approximately 50% of normal GALT enzyme activity, but sometimes the Duarte biochemical phenotype, as defined by a shift in its isozyme-banding pattern toward the anode on isoelectric focusing, is associated with increased GALT enzyme activity; this biochemical variant has been called the 'Los Angeles (LA) variant,' or 'D1' by Ng et al. (1973) and others. The LA variant occurs when the N314D allele is in cis with L218L (652C-T; rs2070075; 606999.0012). Subsequently, Kozak et al. (1999) showed that a 4-bp deletion (-119delGTCA; 606999.0017) in the 5-prime region of the GALT gene was linked with the Duarte allele and conferred reduced enzymatic activity. Carney et al. (2009) showed that the 5-prime 4-bp deletion is the causal mutation in Duarte galactosemia and suggested that direct tests for this deletion could enhance or supplant current tests. </p><p>Another type of galactosemia is associated with the S135L mutation (606999.0010), previously called the 'Negro' variant. The difference in behavior of the metabolism of galactose in these patients may be due to the development of an alternative pathway (Cuatrecasas and Segal, 1966). Other relevant observations on the S135L variant were reported by Baker et al. (1966), Mellman et al. (1965), and Hsia (1967). Mellman et al. (1965) showed that heterozygous parents with the S135L variant show nearly normal enzyme levels in white cells, whereas classically galactosemic heterozygotes have about 50% activity in both red cells and white cells. Heterogeneity was demonstrated by the studies of Segal and Cuatrecasas (1968). Patients with the S135L mutation have a less severe phenotype (De Jongh et al., 1999). </p>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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<span class="mim-text-font">
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<p>On the basis of a screening of newborns in Massachusetts, Shih et al. (1971) found only 2 cases of galactosemia among 374,341 births. Both infants died with E. coli sepsis in the neonatal period. Since E. coli sepsis can be a presenting manifestation of galactosemia, results of the neonatal screening must be reported promptly to the clinician. </p><p><strong><em>Differential Diagnosis</em></strong></p><p>
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Gitzelmann et al. (1992) demonstrated that hypergalactosemia in the newborn with positive routine metabolic screening tests but with no evidence of enzyme deficiency and persistence of hypergalactosemia can be due to open ductus venosus Arantii, resulting in portacaval shunt. They concluded that color Doppler sonography is the method of choice for the diagnosis of an open duct; pulsed wave Doppler sonography was recommended for pathophysiologic characterization of splanchnic venous return. At age 3.5 years, their patient developed symptoms of portosystemic encephalopathy which progressed and was treated by protein restriction, oral lactulose and flumazenil, with some success. </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</h4>
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<span class="mim-text-font">
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<p>Long-term results of treatment have been disappointing; IQ is low in many despite early and seemingly adequate therapy. See, for example, the retrospective study by Schweitzer et al. (1993) of 134 galactosemic patients born between 1955 and 1989 in the Federal Republic of Germany. The cause of the unsatisfactory outcome of seemingly good control of galactose intake and the disturbances in long-term development despite treatment are unclear. Possibilities include chronic intoxication by galactose metabolites or deficiency of galactose-containing glycoproteins and/or glycolipids as a result of an overrestrictive galactose-free diet. </p><p>An international survey of the long-term results of treating galactosemia in 350 cases yielded overall unsatisfactory results which could not be related to variables such as delayed diagnosis or poor dietary compliance (Waggoner et al., 1990). </p><p>Webb et al. (2003) noted that verbal dyspraxia (chaotic speech) is found in many children with classic galactosemia. They reported that a simplified breath test evaluating total body galactose oxidation is a sensitive predictor of verbal dyspraxia in patients with galactosemia. Of 24 patients who underwent a formal speech evaluation, 15 had verbal dyspraxia. Cumulative percentage dose (CUMPCD) values of 13CO(2) in breath less than 5% and mean erythrocyte galactose-1-phosphate values greater than 2.7 mg/dL were associated with dyspraxic outcome with odds ratios of 21 (95% CI, 1.68-265) and 13 (95% CI, 1.81-139), respectively. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By gene dosage studies, Aitken and Ferguson-Smith (1979) assigned the structural gene for GALT to the short arm of chromosome 9. Studying a family in which both the Los Angeles variant of GALT and a 9qh heterochromatin variant were segregating, Sparkes et al. (1979) concluded that the 2 are close together (maximal lod score 3.67 at theta of 0.0). Since GALT had previously been assigned to 9p, this finding suggested that GALT is near the centromere. Using different chromosomal aberrations involving 9p and dosage effects, Sparkes et al. (1979) assigned GALT to p11-p22. Mulcahy and Wilson (1980) concluded that the GALT locus is probably in the segment 9p22-p13. Dagna Bricarelli et al. (1981) studied quantitative expression of GALT and galactose utilization in 2 patients with 9p deletion. A patient with deletion of 9pter-p22 had normal values; a patient with deletion of 9p23-p133 had decrease in both values. The authors interpreted the findings as indicating location of the GALT locus in the 9p21 band. Shih et al. (1982, 1984) assigned the GALT locus to 9p13 by gene dosage. By deletion mapping, Kondo and Nakamura (1984) corroborated the 9p13 localization. </p>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Nadler et al. (1970) found restoration of enzyme activity when cells from 2 patients with galactosemia were hybridized. They interpreted this as evidence of interallelic complementation. Tedesco and Mellman (1971) demonstrated that in galactosemia gal-1-P uridylyltransferase is immunologically intact although enzymatically defective; thus, a structural gene mutation is involved. </p><p>Segal et al. (2006) performed a metabolic analysis of radiolabeled galactose administered to 3 galactosemic patients and 2 controls. The galactosemic patients formed labeled UDPglucose, implying that the classic galactosemic possesses residual GALT activity or some other pathway for forming UDPglucose from galactose. </p><p>Feillet et al. (2008) reported a 7-week-old girl with liver failure, ascites, and generalized edema. Laboratory studies showed increased citrulline and increased levels of other amino acids, suggesting the diagnosis of citrin deficiency (605814). There were low levels of urinary citric acid cycle intermediates, and administration of citrate resulted in improvement in liver function. Introduction of oral galactose resulted in vomiting, galactose aversion, and hepatic dysfunction, consistent with classic galactosemia, and the diagnosis was confirmed by molecular analysis. Feillet et al. (2008) noted the unusual metabolic pattern in this patient and suggested that depletion of citric acid intermediates and resultant energy deprivation could play a role in the pathophysiology of liver disease seen in classic galactosemia. </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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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Elsas and Lai (1998) stated that more than 130 mutations in the GALT gene (606999) had been associated with GALT deficiency. Two common mutations, Q188R (606999.0006) and K285N (606999.0013), accounted for more than 70% of galactosemia-producing alleles in the white population and were associated with classic galactosemia and impaired GALT function. In the black population, S135L (606999.0010) accounted for 62% of the alleles causing galactosemia and was associated with good outcomes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Elsas et al. (1995) described a strategy for identifying new mutations in the GALT gene. A total of 12 new and 21 previously reported rare mutations were found. Among the novel group of 12 new mutations, an unusual biochemical phenotype was found in a family in which the newborn proband had classic galactosemia. From the father, he had inherited 2 mutations in cis: asn314 to asp (N314D; 606999.0005) and glu203 to lys (E203K; 606999.0014). From the mother, he had inherited a mutation in the splice acceptor site of intron C of the GALT gene. The GALT activity in erythrocytes of the father, who was heterozygous for the double mutation, was near normal. An asymptomatic sister showed compound heterozygosity for 3 mutations: E203K-N314D/N314D. Surprisingly, her erythrocytes had normal GALT activity. Elsas et al. (1995) speculated that E203K and N314D codon changes produce intraallelic complementation when in cis. The E203K mutation was located in codon 7 and was the result of a GAG-to-AAG transition; the N314D mutation was in exon 10 and resulted from an AAC-to-GAC transition. The latter mutation is a frequent basis of the Duarte variant; the former was a new mutation found in this study. The chromosome with only one mutation, N314D, came from the proband's mother. </p><p>One of the fundamental questions concerning expression and function of dimeric enzymes involves impact of naturally occurring mutations on subunit assembly and heterodimer activity. The question is of particular interest for GALT, the enzyme deficient in galactosemia, because most patients are compound heterozygotes rather than true molecular homozygotes. Furthermore, the broad range of phenotypic severity observed in these patients raises the possibility that allelic combination, not just allelic constitution, may play some role in determining outcome. Elsevier et al. (1996) studied the Q188R (606999.0006) and R333W mutations to determine the impact of them on subunit assembly and the activity of heterodimers if formed. In a yeast system, they found that both homodimers and heterodimers formed involving each of the mutant subunits tested, and that both heterodimer pools retained substantial enzymatic activity. The yeast system they described was promoted as a model for similar studies of other complexes composed of multiple subunits. The experiments of Elsevier et al. (1996) addressed at the molecular level the issue of functional interaction of subunits studied by Nadler et al. (1970) when they demonstrated interallelic complementation of naturally occurring mutant GALT enzymes in hybrid cells derived by pairwise fusion of skin fibroblasts from 7 galactosemic patients. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Classic Galactosemia</em></strong></p><p>
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Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988). Tyfield et al. (1999) stated that by the end of 1998 more than 150 different base changes in the GALT gene were recorded in 24 different populations and ethnic groups of 15 countries worldwide. Suzuki et al. (2001) estimated that the birth incidence of classic galactosemia is 1 per 47,000 in the white population. In Japan, classic galactosemia is thought to be only one-twentieth as frequent as it is in Caucasian populations of the United States (Ashino et al., 1995). </p><p>Murphy et al. (1999) estimated the incidence of classic transferase-deficient galactosemia in Ireland and determined the underlying GALT mutation spectrum in the Irish population and in the Traveller group (an endogamous group of commercial/industrial nomads within the Irish population). Based on a survey of newborn screening records, the incidence of classic transferase-deficient galactosemia was estimated to be 1 in 480 and 1 in 30,000 among Traveller and non-Traveller communities, respectively. Fifty-six classic galactosemic patients were screened for mutations in the GALT gene. Q188R was the sole mutant allele among the Travellers, as well as being the most frequent mutant allele among the non-Travellers (89.1%). Of the 5 non-Q188R mutant alleles in the non-Traveller group, one was R333G (606999.0015) and one was F194L (606999.0016), with 3 remaining uncharacterized. Anonymous population screening had shown the Q188R carrier frequency to be 0.092 or 1 in 11 among the Travellers, as compared with 0.009 or 1 in 107 among the non-Travellers. The Q188R mutation was shown to be in linkage disequilibrium with a SacI RFLP flanking exon 6 of the GALT gene. Lin and Reichardt (1995) demonstrated that the Q188R mutation is in linkage disequilibrium with the SacI RFLP in African American, Asian, Caucasian, and Latino galactosemic patients. This was interpreted to indicate that the Q188R mutation arose once in the history of the modern human population and was spread worldwide by demic diffusion. The same disequilibrium in the Irish population suggested that the Q188R mutation was present in the indigenous population before the Travellers separated and was carried into the Traveller population by its founders. The findings suggested, furthermore, that the modern Traveller subpopulation in Ireland had an endogenous origin. The high frequency of the Q188R allele appears to be due to founder effect coupled with rapid expansion of this population. </p><p><strong><em>Duarte-1 and Duarte-2 Alleles</em></strong></p><p>
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Vaccaro et al. (1984) studied the frequency of the Duarte (D2) and Los Angeles (D1) variants of red cell gal-1-P uridylyltransferase in Italy; the 2 have similar electrophoretic patterns but the enzyme activity in heterozygotes is about half normal in the former and about 1.5 times normal in the latter. No apparent clinical abnormality accompanies either. The allele frequencies were: N = 0.9192; G (for galactosemia) = 0.0036; D (for Duarte) = 0.0372 and LA (for Los Angeles) = 0.0400. </p><p>Carney et al. (2009) reported that the frequency of the D314 allele (606999.0005) in the CEPH HapMap sample is 11.3%, which is unusually high compared with Yoruba, Chinese, and Japanese populations, which each exhibit frequencies of D314 well under 3%. The frequency of the TTA(Leu) codon (606999.0012) accounted for 4.5% of alleles in the CEPH sample, whereas the frequency is even rarer in non-European populations, with an observed frequency of about 1% in the Chinese sample and a complete absence in the Yoruba and Japanese samples. </p><p>Carney et al. (2009) noted that Duarte galactosemia has an incidence as high as 1 in 4,000 live births. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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Andersen et al. (1983); Andersen et al. (1984); Benson et al. (1979);
|
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Bruns et al. (1978); Dawson et al. (1960); Elsevier and
|
|
Fridovich-Keil (1996); Eriksen and Dissing (1980); Eydoux et al.
|
|
(1981); Garcia-Cruz et al. (1982); Gitzelmann et al. (1967);
|
|
Haschemian and Menne (1972); Hill and Puck (1973); Hsia (1969);
|
|
Ibarra et al. (1979); Lang et al. (1980); Robinson et al. (1984);
|
|
Sparkes et al. (1968); Sparkes et al. (1980); Sun et al. (1974);
|
|
Tedesco and Miller (1979); Tedesco et al. (1975); Urbanowski et al.
|
|
(1982); Walker et al. (1962); Wharton et al. (1978); Xu and Ng (1983)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Aitken, D. A., Ferguson-Smith, M. A.
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<strong>Intrachromosomal assignment of the structural gene for GALT to the short arm of chromosome 9 by gene dosage studies. (Abstract)</strong>
|
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Cytogenet. Cell Genet. 25: 131, 1979.
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</p>
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</li>
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Andersen, M. W., Williams, V. P., Helmer, G. R., Jr., Fried, C., Popak, G.
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<strong>Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.</strong>
|
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Arch. Biochem. Biophys. 222: 326-331, 1983.
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[PubMed: 6340612]
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Andersen, M. W., Williams, V. P., Sparkes, M. C., Sparkes, R. S.
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<strong>Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants.</strong>
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Hum. Genet. 65: 287-290, 1984.
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Ashino, J., Okano, Y., Suyama, I., Yamazaki, T., Yoshino, M., Furuyama, J.-I., Lin, H.-C., Reichardt, J. K. V., Isshiki, G.
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<strong>A case of cataract formation during the lactating period associated with galactose-1-phosphate uridyltransferase deficiency.</strong>
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<strong>Galactosemia: symptomatic and asymptomatic homozygotes in one Negro sibship.</strong>
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J. Pediat. 68: 551-558, 1966.
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Benson, P. F., Brandt, N. J., Christensen, E.
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<strong>Prenatal diagnosis of galactosaemia in six pregnancies--possible complications with rare alleles of the galactose-1-phosphate uridyltransferase locus.</strong>
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Clin. Genet. 16: 311-316, 1979.
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Beutler, E., Baluda, M. C., Sturgeon, P., Day, R.
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<strong>A new genetic abnormality resulting in galactose-1-phosphate uridyltransferase deficiency.</strong>
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Lancet 285: 353-354, 1965. Note: Originally Volume I.
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Brivet, M., Migayron, F., Roger, J., Cheron, G., Lemonnier, A.
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<strong>Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia.</strong>
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J. Inherit. Metab. Dis. 12 (suppl. 2): 343-345, 1989.
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Brivet, M., Raymond, J. P., Konopka, P., Odievre, M., Lemonnier, A.
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J. Pediat. 115: 280-282, 1989.
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Bruns, G. A. P., Leary, A. C., Eisenman, R. E., Bazinet, C. W., Regina, V. M., Gerald, P. S.
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<strong>Expression of ACON-S and GALT in man-rodent somatic cell hybrids.</strong>
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Cytogenet. Cell Genet. 22: 172-176, 1978.
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Carney, A. E., Sanders, R. D., Garza, K. R., McGaha, L. A., Bean, L. J. H., Coffee, B. W., Thomas, J. W., Cutler, D. J., Kurtkaya, N. L., Fridovich-Keil, J. L.
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<strong>Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.</strong>
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Cuatrecasas, P., Segal, S.
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<strong>Galactose conversion to d-xylulose: an alternate route of galactose metabolism.</strong>
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Science 153: 549-550, 1966.
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Dagna Bricarelli, F., Magnani, M., Arslanian, A., Camera, G., Coviello, D. A., Di Pietro, P., Dallapiccola, B.
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<strong>Expression of GALT in two unrelated 9p- patients: evidence for assignment of the GALT locus to the 9p21 band.</strong>
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Hum. Genet. 59: 112-114, 1981.
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[PubMed: 6276288]
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Dawson, S. P., Hickman, R. O., Kelley, V. C.
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Am. J. Dis. Child. 100: 69-73, 1960.
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de Jongh, S., Vreken, P., IJlst, L., Wanders, R. J. A., Jakobs, C., Bakker, H. D.
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<strong>Spontaneous pregnancy in a patient with classical galactosaemia.</strong>
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J. Inherit. Metab. Dis. 22: 754-755, 1999.
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[Full Text: https://doi.org/10.1023/a:1005504403173]
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</p>
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<li>
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<p class="mim-text-font">
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