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Entry
- #229600 - FRUCTOSE INTOLERANCE, HEREDITARY; HFI
- OMIM
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<span class="h4">#229600</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/229600"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=FRUCTOSE INTOLERANCE, HEREDITARY" 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>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:9869" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/229600" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:9869" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 20052008<br />
<strong>ICD10CM:</strong> E74.12<br />
<strong>ICD9CM:</strong> 271.2<br />
<strong>ORPHA:</strong> 469<br />
<strong>DO:</strong> 9869<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
229600
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
FRUCTOSE INTOLERANCE, HEREDITARY; HFI
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
FRUCTOSEMIA<br />
FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY<br />
FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY<br />
ALDOLASE B DEFICIENCY<br />
ALDOB DEFICIENCY
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/375?start=-3&limit=10&highlight=375">
9q31.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Fructose intolerance, hereditary
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/229600"> 229600 </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">
ALDOB
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612724"> 612724 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/229600" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/229600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/229600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Absent dental caries <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749640&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749640</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br /> -
Hepatic steatosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/442191002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">442191002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197321007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197321007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2711227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2711227</a>, <a href="https://bioportal.bioontology.org/search?q=C0015695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015695</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001397" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001397</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001397" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001397</a>]</span><br /> -
Cirrhosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19943007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19943007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023890</a>, <a href="https://bioportal.bioontology.org/search?q=C1623038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1623038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</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">
- Aversion to sweets and fruit <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749639</a>]</span><br /> -
Vomiting <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422400008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422400008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300359004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300359004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249497008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249497008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span><br /> -
Nausea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422587007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422587007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027497&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027497</a>, <a href="https://bioportal.bioontology.org/search?q=C4255480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4255480</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002018" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002018</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002018" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002018</a>]</span><br /> -
Malnutrition <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2492009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2492009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248325000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248325000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65404009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65404009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E46</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/E40-E46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E40-E46</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162429&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162429</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004395</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004395</a>]</span><br /> -
Abdominal pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21522001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21522001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/789.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000737&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000737</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002027</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Proximal renal tubulopathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000114</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000114</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Jaundice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18165001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R17</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2203646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2203646</a>, <a href="https://bioportal.bioontology.org/search?q=C0022346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022346</a>, <a href="https://bioportal.bioontology.org/search?q=C2010848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2010848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Lethargy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/214264003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">214264003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023380&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023380</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001254" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001254</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001254" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001254</a>]</span><br /> -
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
Coma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/371632003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">371632003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405809000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405809000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R40.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R40.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0543874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0543874</a>, <a href="https://bioportal.bioontology.org/search?q=C3146279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3146279</a>, <a href="https://bioportal.bioontology.org/search?q=C0009421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009421</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001259</a>]</span><br /> -
Mental 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> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> METABOLIC FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Metabolic acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59455009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59455009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220981</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span><br /> -
Lactic acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91273001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91273001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001125&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001125</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003128</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003128</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypoglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237630007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237630007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271327008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271327008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302866003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302866003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179458001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179458001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020615</a>, <a href="https://bioportal.bioontology.org/search?q=C5767385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5767385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span><br /> -
Fructosemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20052008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20052008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E74.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E74.12</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/271.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">271.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016751&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016751</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005973</a>]</span><br /> -
Hyperuricemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35885006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35885006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740394</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002149</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002149</a>]</span><br /> -
Hypophosphatemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4996001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4996001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0595888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0595888</a>, <a href="https://bioportal.bioontology.org/search?q=C0085682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085682</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002148</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002148</a>]</span><br /> -
Abnormal liver function tests <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166603001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166603001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R94.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R94.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/794.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">794.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151766&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151766</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span><br /> -
Fructose-1,6-bisphosphate aldolase B deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20052008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20052008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E74.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E74.12</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/271.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">271.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016751&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016751</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005973</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Onset in infancy after weaning<br /> -
Symptoms can be prevented by strict dietary restriction<br /> -
Persistent exposure to fructose leads to chronic liver and kidney complications<br /> -
Some patients with heterozygous mutations may be symptomatic<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the aldolase B, fructose-bisphosphate gene (ALDOB, <a href="/entry/612724#0001">612724.0001</a>)<br />
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<p>A number sign (#) is used with this entry because hereditary fructose intolerance (HFI) is caused by homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB; <a href="/entry/612724">612724</a>) on chromosome 9q31.</p>
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<p>Hereditary fructose intolerance (HFI) becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet. Clinical features include recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth retardation. Older patients who survive infancy develop a natural avoidance of sweets and fruits. <a href="#2" class="mim-tip-reference" title="Ali, M., Rellos, P., Cox, T. M. &lt;strong&gt;Hereditary fructose intolerance.&lt;/strong&gt; J. Med. Genet. 35: 353-365, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9610797/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9610797&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.35.5.353&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9610797">Ali et al. (1998)</a> provided a detailed review of the biochemical, genetic, and molecular basis of aldolase B deficiency in hereditary fructose intolerance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9610797" 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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<strong>Clinical Features</strong>
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<p><a href="#5" class="mim-tip-reference" title="Chambers, R. A., Pratt, R. T. C. &lt;strong&gt;Idiosyncrasy to fructose.&lt;/strong&gt; Lancet 268: 340 only, 1956. Note: Originally Volume II.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13358219/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13358219&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(56)92196-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13358219">Chambers and Pratt (1956)</a> first reported fructose intolerance in a 24-year-old woman who complained of nausea, abdominal pain, and faintness after ingesting sugar and fructose. She did not enjoy sweet tastes. The authors termed the phenomenon 'idiosyncrasy to fructose,' and postulated that some of the symptoms resulted from hypoglycemia (<a href="#2" class="mim-tip-reference" title="Ali, M., Rellos, P., Cox, T. M. &lt;strong&gt;Hereditary fructose intolerance.&lt;/strong&gt; J. Med. Genet. 35: 353-365, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9610797/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9610797&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.35.5.353&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9610797">Ali et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13358219+9610797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Perheentupa, J., Pitkanen, E. &lt;strong&gt;Symptomless hereditary fructose intolerance. (Letter)&lt;/strong&gt; Lancet 279: 1358-1359, 1962. Note: Originally Volume I."None>Perheentupa and Pitkanen (1962)</a> reported a severely affected infant who had recurrent hypoglycemia and vomiting after weaning, when fructose or sucrose was added to the diet. The symptoms resulted in marked malnutrition. However, the patient's 3-year-old brother only developed hepatomegaly and hypoglycemic shock after an oral test dose of fructose. He was otherwise clinically healthy, but showed a marked aversion to sweets and fruit.</p><p><a href="#16" class="mim-tip-reference" title="Froesch, E. R., Wolf, H. P., Baitsch, H., Prader, A., Labhart, A. &lt;strong&gt;Hereditary fructose intolerance: an inborn defect of hepatic fructose-1-phosphate splitting aldolase.&lt;/strong&gt; Am. J. Med. 34: 151-167, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13959929/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13959929&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(63)90050-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13959929">Froesch et al. (1963)</a> described 2 adults, aged 33 and 39 years, with fructose intolerance. In addition to the aversion to fructose-containing foods, both had a remarkable absence of dental caries. <a href="#46" class="mim-tip-reference" title="Swales, J. D., Smith, A. D. M. &lt;strong&gt;Adult fructose intolerance.&lt;/strong&gt; Quart. J. Med. XXXV: 455-473, 1966."None>Swales and Smith (1966)</a> described an affected 21-year-old man, and <a href="#20" class="mim-tip-reference" title="Kohlin, P., Melin, K. &lt;strong&gt;Hereditary fructose intolerance in four Swedish families.&lt;/strong&gt; Acta Paediat. Scand. 57: 24-32, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5637008/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5637008&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1968.tb07281.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5637008">Kohlin and Melin (1968)</a> reported adult cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5637008+13959929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Mass, R. E., Smith, W. R., Walsh, J. R. &lt;strong&gt;The association of hereditary fructose intolerance and renal tubular acidosis.&lt;/strong&gt; Am. J. Med. Sci. 251: 516-523, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5933765/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5933765&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00000441-196605000-00003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5933765">Mass et al. (1966)</a> reported a patient with fructose intolerance who had developed renal tubular acidosis. It was unclear to the authors whether this was an independent disorder or a complication of the fructosemia. <a href="#37" class="mim-tip-reference" title="Perheentupa, J., Raivio, K. O. &lt;strong&gt;Fructose-induced hyperuricaemia.&lt;/strong&gt; Lancet 290: 528-531, 1967. Note: Originally Volume II.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4166890/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4166890&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(67)90494-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4166890">Perheentupa and Raivio (1967)</a> discussed hyperuricemia in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5933765+4166890" 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="#26" class="mim-tip-reference" title="Mandel, H., Gozal, D., Aizin, A., Tavori, S., Jaffe, M. &lt;strong&gt;Haemophagocytosis in hereditary fructose intolerance: a diagnostic dilemma.&lt;/strong&gt; J. Inherit. Metab. Dis. 13: 267-269, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2122082/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2122082&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01799369&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2122082">Mandel et al. (1990)</a> reported an infant with fructose intolerance in whom the diagnosis was delayed due to the finding of hemophagocytosis in the bone marrow. The authors noted that most, if not all, patients with fructose intolerance have neonatal hypoglycemia, lactic acidosis, and an abnormal fructose or glycerol loading test. Hypoglycemic attacks occur later in life and are associated with severe hyperuricemia and metabolic acidosis. Therapeutic measures include restriction of fructose intake and avoidance of prolonged fasting, particularly during febrile episodes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2122082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Ali, M., Rellos, P., Cox, T. M. &lt;strong&gt;Hereditary fructose intolerance.&lt;/strong&gt; J. Med. Genet. 35: 353-365, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9610797/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9610797&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.35.5.353&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9610797">Ali et al. (1998)</a> noted that infants with fructose intolerance can have a severe reaction, including lethargy, seizures, and coma, if large quantities of sugar are ingested. In addition, persistent intake can lead to chronic toxicity, including liver and kidney damage. Those who survive the early period without correct diagnosis develop a self-protective aversion to the harmful sugars. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9610797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Esposito, G., Imperato, M. R., Ieno, L., Sorvillo, R., Benigno, V., Parenti, G., Parini, R., Vitagliano, L., Zagari, A., Salvatore, F. &lt;strong&gt;Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.&lt;/strong&gt; Hum. Mutat. 31: 1294-1303, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20848650/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20848650&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.21359&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20848650">Esposito et al. (2010)</a> reported 2 unrelated patients with fructose intolerance who were determined to be heterozygous for a mutation in the ALDOB gene. One patient with an R46W substitution (<a href="/entry/612724#0014">612724.0014</a>) had mild hypoglycemia and ketosis after ingestion of fructose and a marked aversion to sweets and fruit. The second patient with a Y343H substitution (<a href="/entry/612724#0015">612724.0015</a>) was hospitalized for a series of febrile episodes associated with severe liver dysfunction at age 8 months. She died 1 month later from unknown causes. In vitro functional expression studies of both variants showed variably compromised enzyme activity. The report emphasized that heterozygous ALDOB mutations may result in symptoms in some patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20848650" 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>Clinical Variability</em></strong></p><p>
An adult form of fructose intolerance was reported by <a href="#22" class="mim-tip-reference" title="Lameire, N., Mussche, M., Baele, G., Kint, J. A., Ringoir, S. &lt;strong&gt;Hereditary fructose intolerance: a difficult diagnosis in the adult.&lt;/strong&gt; Am. J. Med. 65: 416-423, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/213970/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;213970&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(78)90767-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="213970">Lameire et al. (1978)</a> in a Belgian patient. When a fructose solution was used for intravenous alimentation during management of viral meningitis, a 21-year-old man developed severe illness characterized by acute jaundice, gastrointestinal bleeding, hypoglycemia, proximal tubular acidosis, and disseminated intravascular coagulation. The renal disorder was characterized by glycosuria, amino aciduria, phosphaturia, and bicarbonaturia with high urinary pH despite metabolic acidosis. Liver fructose-1-phosphate aldolase activity was 30% of normal, and fructose-1,6-diphosphate aldolase activity was normal. In classic fructose intolerance, these values are 0 to 6% and 10 to 50% of normal, respectively. Thus, the patient appeared to have a mild form of the disorder, may have been heterozygous, and likely showed manifestations only because of the massive fructose infusion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=213970" 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="#42" class="mim-tip-reference" title="Richardson, R. M. A., Little, J. A., Patten, R. L., Goldstein, M. B., Halperin, M. L. &lt;strong&gt;Pathogenesis of acidosis in hereditary fructose intolerance.&lt;/strong&gt; Metabolism 28: 1133-1138, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/491970/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;491970&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0026-0495(79)90152-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="491970">Richardson et al. (1979)</a> reported the typical biochemical changes in an 18-year-old man with fructose intolerance after oral ingestion of fructose. He developed fructosemia, hypoglycemia, hypophosphatemia, hyperuricemia, and metabolic acidosis primarily due to lactic acidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=491970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Jaeken, J., Pirard, M., Adamowicz, M., Pronicka, E., Van Schaftingen, E. &lt;strong&gt;Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.&lt;/strong&gt; Pediat. Res. 40: 764-766, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8910943/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8910943&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1203/00006450-199611000-00017&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8910943">Jaeken et al. (1996)</a> investigated the serum lysosomal enzymes beta-hexosaminidase (HEXA; <a href="/entry/606869">606869</a>) and beta-glucuronidase (GUSB; <a href="/entry/611499">611499</a>) in 2 patients with hereditary fructose intolerance and found abnormalities identical to those in carbohydrate-deficient glycoprotein syndrome type I (see CDGIb; <a href="/entry/602579">602579</a>), but different from those in untreated galactosemia (<a href="/entry/230400">230400</a>). In studies in rat liver, they found that fructose-1-phosphate was a potent competitive inhibitor of phosphomannose isomerase, the first enzyme of the N-glycosylation pathway, thus explaining the N-glycosylation disturbances in hereditary fructose intolerance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8910943" 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>Hereditary fructose intolerance is an autosomal recessive disorder (<a href="#2" class="mim-tip-reference" title="Ali, M., Rellos, P., Cox, T. M. &lt;strong&gt;Hereditary fructose intolerance.&lt;/strong&gt; J. Med. Genet. 35: 353-365, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9610797/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9610797&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.35.5.353&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9610797">Ali et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9610797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#48" class="mim-tip-reference" title="Wolf, H., Zschocke, D., Wedemeyer, F. W., Huebner, W. &lt;strong&gt;Angeborene hereditaere Fructose-Intoleranz.&lt;/strong&gt; Klin. Wschr. 37: 693-696, 1959.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13673549/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13673549&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01478217&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13673549">Wolf et al. (1959)</a> reported cases of fructose intolerance in a father and son, but the mother was likely heterozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13673549" 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>Since aldolase B is normally present in kidney and intestinal mucosa as well as in liver, <a href="#7" class="mim-tip-reference" title="Cox, T. M., Camilleri, M., O&#x27;Donnell, M. W., Chadwick, V. S. &lt;strong&gt;Pseudodominant transmission of fructose intolerance in an adult and three offspring: heterozygote detection by intestinal biopsy.&lt;/strong&gt; New Eng. J. Med. 307: 537-540, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7099225/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7099225&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198208263070906&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7099225">Cox et al. (1982)</a> were able to detect heterozygotes by intestinal biopsy. In a Jewish family, they demonstrated that apparent dominant inheritance was the result of a homozygote-heterozygote mating. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7099225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In aldolase B-deficient tissues, cytoplasmic accumulation of fructose-1-phosphate leads to sequestration of inorganic phosphate with resulting activation of AMP deaminase that catalyzes the irreversible deamination of AMP to IMP (inosine monophosphate), a precursor of uric acid. In the cytoplasm, AMP, ADP, and ATP are maintained in a state approaching equilibrium. Depletion of tissue ATP occurs through massive degradation to uric acid and impairment of regeneration by oxidative phosphorylation in the mitochondria because of inorganic phosphate depletion. In the cell, ATP exists largely as a 1:1 complex with magnesium. Depletion of ATP in tissues leads to depletion also of magnesium concentration. <a href="#32" class="mim-tip-reference" title="Oberhaensli, R. D., Rajagopalan, B., Taylor, D. J., Radda, G. K., Collins, J. E., Leonard, J. V., Schwarz, H., Herschkowitz, N. &lt;strong&gt;Study of hereditary fructose intolerance by use of (31)P magnetic resonance spectroscopy.&lt;/strong&gt; Lancet 330: 931-934, 1987. Note: Originally Volume II.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2889861/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2889861&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(87)91419-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2889861">Oberhaensli et al. (1987)</a> used (31)P magnetic resonance spectroscopy to study the effect of fructose on liver metabolism in patients with this disorder. In heterozygotes, the method could be used to diagnose fructose intolerance and to monitor patient compliance with a restricted diet. Ingestion of small amounts of fructose was followed by an increase in sugar phosphates and decrease in inorganic phosphate in the liver. In heterozygotes, fructose led to accumulation of sugar phosphates and depletion of inorganic phosphate in the liver. Fructose also induced a larger increase in plasma urate in heterozygotes than in control subjects. Heterozygosity for this disorder may predispose to hyperuricemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2889861" 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="Edstrom, C. S. &lt;strong&gt;Hereditary fructose intolerance in the vomiting infant.&lt;/strong&gt; Pediatrics 85: 600-603, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2314976/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2314976&lt;/a&gt;]" pmid="2314976">Edstrom (1990)</a> emphasized hereditary fructose intolerance as the basis of vomiting in infants. Oral administration of a fructose solution resulted in a characteristic decrease in serum glucose and phosphorus within 1 hour. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2314976" 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="#35" class="mim-tip-reference" title="Paolella, G., Santamaria, R., Buono, P., Salvatore, F. &lt;strong&gt;Mapping of a restriction fragment length polymorphism within the human aldolase B gene.&lt;/strong&gt; Hum. Genet. 77: 115-117, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2888717/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2888717&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00272375&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2888717">Paolella et al. (1987)</a> described a RFLP within the ALDOB gene useful in the study of hereditary fructose intolerance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2888717" 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="#17" class="mim-tip-reference" title="Gitzelmann, R., Steinmann, B., Bally, C., Lebherz, H. G. &lt;strong&gt;Antibody activation of mutant human fructosediphosphate aldolase B in liver extracts of patients with hereditary fructose intolerance.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 59: 1270-1277, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4212946/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4212946&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0006-291x(74)90451-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4212946">Gitzelmann et al. (1974)</a> demonstrated that antiserum against crystallized fructosediphosphate aldolase B from human liver activated the mutant enzyme in liver extracts from 3 patients with hereditary fructose intolerance, but not in 2 others. Both genetic heterogeneity and potential for therapy were suggested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4212946" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Mock, D. M., Perman, J. A., Thaler, M. M., Morris, R. C., Jr. &lt;strong&gt;Chronic fructose intoxication after infancy in children with hereditary fructose intolerance: a cause of growth retardation.&lt;/strong&gt; New Eng. J. Med. 309: 764-770, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6888454/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6888454&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198309293091305&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6888454">Mock et al. (1983)</a> described 2 unrelated boys with hereditary fructose intolerance who had growth retardation, which occurred even though acute symptomatic fructose intoxication was prevented by restriction of dietary fructose. Stringent limitation of fructose intake resulted in accelerated growth. Experimental challenge with fructose caused sustained hyperuricemia and hyperuricosuria and increased plasma and urine levels of magnesium, without symptoms, hypoglycemia, or evidence of hepatic or renal dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6888454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Marks, F., Ordorica, S., Hoskins, I., Young, B. K. &lt;strong&gt;Congenital hereditary fructose intolerance and pregnancy.&lt;/strong&gt; Am. J. Obstet. Gynec. 160: 362-363, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2916618/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2916618&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9378(89)90445-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2916618">Marks et al. (1989)</a> described the obstetrical management of a woman with fructose intolerance. Her first child had failure to thrive and died at 6 months; autopsy showed cirrhosis and pulmonary edema, with a clinical diagnosis of E. coli sepsis. Her second child also had fructose intolerance and died at age 5 years from acquired immunodeficiency syndrome contracted from a neonatal blood transfusion. On a strict fructose-free diet, her third pregnancy proceeded well; the child, who was also found to have fructose intolerance, did well on a fructose-free diet. Diagnosis of fructose intolerance was said to have been verified in the mother by biopsy of the liver. Presumably the father of these children was at least heterozygous for the fructose intolerance gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2916618" 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="Li, H., Byers, H. M., Diaz-Kuan, A., Vos, M. B., Hall, P. L., Tortorelli, S., Singh, R., Wallenstein, M. B., Allain, M., Dimmock, D. P., Farrell, R. M., McCandless, S., Gambello, M. J. &lt;strong&gt;Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.&lt;/strong&gt; Molec. Genet. Metab. 123: 428-432, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29510902/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29510902&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2018.02.016&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29510902">Li et al. (2018)</a> reported 4 unrelated infants under the age of 6 weeks with undiagnosed hereditary fructose intolerance who developed acute liver failure associated with intake of sucrose-containing infant formulas. Laboratory derangements included lactic acidosis, hypoglycemia, direct hyperbilirubinemia, and elevated PT/PTT. These abnormalities resolved with the introduction of fructose- and sucrose-free formulas. <a href="#25" class="mim-tip-reference" title="Li, H., Byers, H. M., Diaz-Kuan, A., Vos, M. B., Hall, P. L., Tortorelli, S., Singh, R., Wallenstein, M. B., Allain, M., Dimmock, D. P., Farrell, R. M., McCandless, S., Gambello, M. J. &lt;strong&gt;Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.&lt;/strong&gt; Molec. Genet. Metab. 123: 428-432, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29510902/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29510902&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2018.02.016&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29510902">Li et al. (2018)</a> stated that carbohydrate ingredients in infant formulas that are contraindicated in HFI and can trigger onset of symptoms in undiagnosed individuals include fructose, high-fructose corn syrup, sucrose, inulin, and fructooligosaccharides. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29510902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>In affected individuals from several unrelated families with fructose intolerance, <a href="#11" class="mim-tip-reference" title="Cross, N. C. P., Tolan, D. R., Cox, T. M. &lt;strong&gt;Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.&lt;/strong&gt; Cell 53: 881-885, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3383242/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3383242&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0092-8674(88)90349-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3383242">Cross et al. (1988)</a> identified homozygosity for a mutation in the ALDOB gene (A149P; <a href="/entry/612724#0001">612724.0001</a>). The findings indicated that this mutation may be a common cause of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3383242" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Cross, N. C. P., Cox, T. M. &lt;strong&gt;Partial aldolase B gene deletions in hereditary fructose intolerance.&lt;/strong&gt; Am. J. Hum. Genet. 47: 101-106, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2349937/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2349937&lt;/a&gt;]" pmid="2349937">Cross and Cox (1990)</a> identified deletions in the aldolase B gene in patients with fructose intolerance. Two were large deletions of 1.65 kb and 1.4 kb, respectively, whereas the third was a small 4-bp deletion (<a href="/entry/612724#0004">612724.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2349937" 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="#47" class="mim-tip-reference" title="Tolan, D. R. &lt;strong&gt;Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.&lt;/strong&gt; Hum. Mutat. 6: 210-218, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8535439/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8535439&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.1380060303&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8535439">Tolan (1995)</a> reviewed 21 ALDOB mutations that had been reported to that time; 15 were single-base substitutions, resulting in 9 amino acid replacements, 4 nonsense codons, and 2 putative splicing defects, and the other 6 were deletions. Recurrent mutations were observed in exons 5 and 9. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8535439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 162 patients from 92 families with hereditary fructose intolerance, <a href="#12" class="mim-tip-reference" title="Davit-Spraul, A., Costa, C., Zater, M., Habes, D., Berthelot, J., Broue, P., Feillet, F., Bernard, O., Labrune, P., Baussan, C. &lt;strong&gt;Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.&lt;/strong&gt; Molec. Genet. Metab. 94: 443-447, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18541450/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18541450&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2008.05.003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18541450">Davit-Spraul et al. (2008)</a> identified 16 different mutations in the ALDOB gene, including 8 novel mutations. Most of the patients were French. The most common mutations were A149P (64%), A174D (<a href="/entry/612724#0002">612724.0002</a>) (16%), and N335K (<a href="/entry/612724#0013">612724.0013</a>) (5%). Screening for these 3 mutations alone confirmed the diagnosis in 69 (75%) of 92 probands. There were no apparent genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18541450" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 6 unrelated Italian patients with hereditary fructose intolerance, <a href="#14" class="mim-tip-reference" title="Esposito, G., Imperato, M. R., Ieno, L., Sorvillo, R., Benigno, V., Parenti, G., Parini, R., Vitagliano, L., Zagari, A., Salvatore, F. &lt;strong&gt;Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.&lt;/strong&gt; Hum. Mutat. 31: 1294-1303, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20848650/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20848650&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.21359&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20848650">Esposito et al. (2010)</a> identified a 6.5-kb deletion in the ALDOB gene (<a href="/entry/612724#0013">612724.0013</a>). The authors could not rule out the possibility of a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20848650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="populationGenetics" class="mim-anchor"></a>
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<strong>Population Genetics</strong>
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<p>The incidence of hereditary fructose intolerance in the Caucasian population has been estimated at 1 in 20,000 births (<a href="#10" class="mim-tip-reference" title="Cross, N. C. P., de Franchis, R., Sebastio, G., Dazzo, C., Tolan, D. R., Gregori, C., Odievre, M., Vidailhet, M., Romano, V., Mascali, G., Romano, C., Musumeci, S., Steinmann, B., Gitzelmann, R., Cox, T. M. &lt;strong&gt;Molecular analysis of aldolase B genes in hereditary fructose intolerance.&lt;/strong&gt; Lancet 335: 306-309, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1967768/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1967768&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0140-6736(90)90603-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1967768">Cross et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1967768" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By haplotype analysis, <a href="#47" class="mim-tip-reference" title="Tolan, D. R. &lt;strong&gt;Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.&lt;/strong&gt; Hum. Mutat. 6: 210-218, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8535439/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8535439&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.1380060303&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8535439">Tolan (1995)</a> demonstrated that the A149P (<a href="/entry/612724#0001">612724.0001</a>) and A174D (<a href="/entry/612724#0002">612724.0002</a>) ALDOB mutations originated from a single founder and had achieved a relatively high frequency through genetic drift. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8535439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the United Kingdom, about 1.3% of neonates carry 1 copy of the A149P mutation (<a href="#2" class="mim-tip-reference" title="Ali, M., Rellos, P., Cox, T. M. &lt;strong&gt;Hereditary fructose intolerance.&lt;/strong&gt; J. Med. Genet. 35: 353-365, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9610797/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9610797&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.35.5.353&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9610797">Ali et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9610797" 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="#34" class="mim-tip-reference" title="Oppelt, S. A., Sennott, E. M., Tolan, D. R. &lt;strong&gt;Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans.&lt;/strong&gt; Molec. Genet. Metab. 114: 445-450, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25637246/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25637246&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2015.01.001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25637246">Oppelt et al. (2015)</a> found that the phenotype of Aldo2-null mice is a phenocopy of hereditary fructose intolerance. The null mice showed failure to thrive and liver dysfunction that was exacerbated by fructose ingestion. Livers of Aldo2-null mice exhibited rapid onset of hepatic steatosis that could be reversed by removal of fructose from the diet. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25637246" 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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<strong>Nomenclature</strong>
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<p>By analogy to galactosemia (<a href="/entry/230400">230400</a>), <a href="#23" class="mim-tip-reference" title="Levin, B., Oberholzer, V. G., Snodgrass, G. J. A. I., Stimmler, L., Wilmers, M. J. &lt;strong&gt;Fructosaemia: an inborn error of fructose metabolism.&lt;/strong&gt; Arch. Dis. Child. 38: 220-230, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13930101/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13930101&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.38.199.220&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13930101">Levin et al. (1963)</a> suggested the term 'fructosemia' to refer to hereditary fructose intolerance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13930101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="seeAlso" class="mim-anchor"></a>
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<strong>See Also:</strong>
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<span class="mim-text-font">
<a href="#Ali1995" class="mim-tip-reference" title="Ali, M., Cox, T. M. &lt;strong&gt;Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. (Letter)&lt;/strong&gt; Am. J. Hum. Genet. 56: 1002-1005, 1995.">Ali and Cox (1995)</a>; <a href="#Ali1994" class="mim-tip-reference" title="Ali, M., Tuncman, G., Cross, N. C. P., Vidailhet, M., Bokesoy, I., Gitzelmann, R., Cox, T. M. &lt;strong&gt;Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.&lt;/strong&gt; J. Med. Genet. 31: 499-503, 1994.">Ali et al. (1994)</a>; <a href="#Baerlocher1978" class="mim-tip-reference" title="Baerlocher, K., Gitzelmann, R., Steinmann, B., Gitzelmann-Cumarasamy, N. &lt;strong&gt;Hereditary fructose intolerance in early childhood: a major diagnostic challenge: survey of 20 symptomatic cases.&lt;/strong&gt; Helv. Paediat. Acta 33: 465-487, 1978.">Baerlocher et al. (1978)</a>; <a href="#Cornblath1963" class="mim-tip-reference" title="Cornblath, M., Rosenthal, I. M., Reisner, S. H., Wybregt, S. H., Crane, R. K. &lt;strong&gt;Hereditary fructose intolerance.&lt;/strong&gt; New Eng. J. Med. 269: 1271-1278, 1963.">Cornblath et al. (1963)</a>; <a href="#Cross1989" class="mim-tip-reference" title="Cross, N. C. P., Cox, T. M. &lt;strong&gt;Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom.&lt;/strong&gt; Quart. J. Med. 73: 1015-1020, 1989.">Cross and Cox (1989)</a>; <a href="#Esposito2002" class="mim-tip-reference" title="Esposito, G., Vitagliano, L., Santamaria, R., Viola, A., Zagari, A., Salvatore, F. &lt;strong&gt;Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.&lt;/strong&gt; FEBS Lett. 531: 152-156, 2002.">Esposito et al.
(2002)</a>; <a href="#Kajihara1990" class="mim-tip-reference" title="Kajihara, S., Mukai, T., Arai, Y., Owada, M., Kitagawa, T., Hori, K. &lt;strong&gt;Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene.&lt;/strong&gt; Am. J. Hum. Genet. 47: 562-567, 1990.">Kajihara et al. (1990)</a>; <a href="#Kranhold1969" class="mim-tip-reference" title="Kranhold, J. F., Loh, D., Morris, R. C., Jr. &lt;strong&gt;Renal fructose-metabolizing enzymes: significance in hereditary fructose intolerance.&lt;/strong&gt; Science 165: 402-403, 1969.">Kranhold et al. (1969)</a>; <a href="#Levin1968" class="mim-tip-reference" title="Levin, B., Snodgrass, G. J. A. I., Oberholzer, V. G., Burgess, E. A., Dobbs, R. H. &lt;strong&gt;Fructosaemia: observations on seven cases.&lt;/strong&gt; Am. J. Med. 45: 826-838, 1968.">Levin et al.
(1968)</a>; <a href="#Nikkila1962" class="mim-tip-reference" title="Nikkila, E. A., Somersalo, O., Pitkanen, E., Perheentupa, J. &lt;strong&gt;Hereditary fructose intolerance, an inborn deficiency of liver aldolase complex.&lt;/strong&gt; Metabolism 11: 727-731, 1962.">Nikkila et al. (1962)</a>; <a href="#Nordmann1968" class="mim-tip-reference" title="Nordmann, Y., Schapira, F., Dreyfus, J.-C. &lt;strong&gt;A structurally modified liver aldolase in fructose intolerance: immunological and kinetic evidence.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 31: 884-889, 1968.">Nordmann et al. (1968)</a>; <a href="#Odievre1978" class="mim-tip-reference" title="Odievre, M., Gentil, C. I., Gautier, M., Alagille, D. &lt;strong&gt;Hereditary fructose intolerance in childhood: diagnosis, management, and course in 55 patients.&lt;/strong&gt; Am. J. Dis. Child. 132: 605-608, 1978.">Odievre et al.
(1978)</a>; <a href="#Perheentupa1980" class="mim-tip-reference" title="Perheentupa, J. &lt;strong&gt;Hereditary fructose intolerance (HFI). In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders.&lt;/strong&gt; New York: Academic Press (pub.) 1980. Pp. 617-619.">Perheentupa (1980)</a>; <a href="#Raivio1967" class="mim-tip-reference" title="Raivio, K. O., Perheentupa, J., Nikkila, E. A. &lt;strong&gt;Aldolase activities in the liver in parents of patients with hereditary fructose intolerance.&lt;/strong&gt; Clin. Chim. Acta 17: 275-279, 1967.">Raivio et al. (1967)</a>; <a href="#Rampa1981" class="mim-tip-reference" title="Rampa, M., Froesch, E. R. &lt;strong&gt;Eleven cases of hereditary fructose intolerance in one Swiss family with a pair of monozygotic and of dizygotic twins.&lt;/strong&gt; Helv. Paediat. Acta 36: 317-324, 1981.">Rampa and Froesch
(1981)</a>; <a href="#Rennert1970" class="mim-tip-reference" title="Rennert, O. M., Greer, M. &lt;strong&gt;Hereditary fructosemia.&lt;/strong&gt; Neurology 20: 421-425, 1970.">Rennert and Greer (1970)</a>; <a href="#Santamaria1999" class="mim-tip-reference" title="Santamaria, R., Vitagliano, L., Tamasi, S., Izzo, P., Zancan, L., Zagari, A., Salvatore, F. &lt;strong&gt;Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications.&lt;/strong&gt; Europ. J. Hum. Genet. 7: 409-414, 1999.">Santamaria et al. (1999)</a>; <a href="#Sebastio1991" class="mim-tip-reference" title="Sebastio, G., de Franchis, R., Strisciuglio, P., Andria, G., Dionisi Vici, C., Sabetta, G., Gatti, R., Cross, N. C. P., Cox, T. M. &lt;strong&gt;Aldolase B mutations in Italian families affected by hereditary fructose intolerance.&lt;/strong&gt; J. Med. Genet. 28: 241-243, 1991.">Sebastio
et al. (1991)</a>; <a href="#Steinmann1981" class="mim-tip-reference" title="Steinmann, B., Gitzelmann, R. &lt;strong&gt;The diagnosis of hereditary fructose intolerance.&lt;/strong&gt; Helv. Paediat. Acta 36: 297-316, 1981.">Steinmann and Gitzelmann (1981)</a>
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<a id="references"class="mim-anchor"></a>
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<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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</h4>
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</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Ali1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ali, M., Cox, T. M.
<strong>Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. (Letter)</strong>
Am. J. Hum. Genet. 56: 1002-1005, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7717389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7717389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7717389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="2" class="mim-anchor"></a>
<a id="Ali1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ali, M., Rellos, P., Cox, T. M.
<strong>Hereditary fructose intolerance.</strong>
J. Med. Genet. 35: 353-365, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9610797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9610797</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9610797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.35.5.353" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
<a id="Ali1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ali, M., Tuncman, G., Cross, N. C. P., Vidailhet, M., Bokesoy, I., Gitzelmann, R., Cox, T. M.
<strong>Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.</strong>
J. Med. Genet. 31: 499-503, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8071980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8071980</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8071980" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.31.6.499" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Baerlocher1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Baerlocher, K., Gitzelmann, R., Steinmann, B., Gitzelmann-Cumarasamy, N.
<strong>Hereditary fructose intolerance in early childhood: a major diagnostic challenge: survey of 20 symptomatic cases.</strong>
Helv. Paediat. Acta 33: 465-487, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/738900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">738900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=738900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Chambers1956" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chambers, R. A., Pratt, R. T. C.
<strong>Idiosyncrasy to fructose.</strong>
Lancet 268: 340 only, 1956. Note: Originally Volume II.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13358219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13358219</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13358219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0140-6736(56)92196-1" target="_blank">Full Text</a>]
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<a id="Cornblath1963" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cornblath, M., Rosenthal, I. M., Reisner, S. H., Wybregt, S. H., Crane, R. K.
<strong>Hereditary fructose intolerance.</strong>
New Eng. J. Med. 269: 1271-1278, 1963.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14060577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14060577</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14060577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM196312122692401" target="_blank">Full Text</a>]
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<a id="Cox1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cox, T. M., Camilleri, M., O'Donnell, M. W., Chadwick, V. S.
<strong>Pseudodominant transmission of fructose intolerance in an adult and three offspring: heterozygote detection by intestinal biopsy.</strong>
New Eng. J. Med. 307: 537-540, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7099225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7099225</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7099225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM198208263070906" target="_blank">Full Text</a>]
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<a id="Cross1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cross, N. C. P., Cox, T. M.
<strong>Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom.</strong>
Quart. J. Med. 73: 1015-1020, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2623136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2623136</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2623136" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="9" class="mim-anchor"></a>
<a id="Cross1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cross, N. C. P., Cox, T. M.
<strong>Partial aldolase B gene deletions in hereditary fructose intolerance.</strong>
Am. J. Hum. Genet. 47: 101-106, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2349937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2349937</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2349937" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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</li>
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<a id="10" class="mim-anchor"></a>
<a id="Cross1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cross, N. C. P., de Franchis, R., Sebastio, G., Dazzo, C., Tolan, D. R., Gregori, C., Odievre, M., Vidailhet, M., Romano, V., Mascali, G., Romano, C., Musumeci, S., Steinmann, B., Gitzelmann, R., Cox, T. M.
<strong>Molecular analysis of aldolase B genes in hereditary fructose intolerance.</strong>
Lancet 335: 306-309, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1967768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1967768</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1967768" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0140-6736(90)90603-3" target="_blank">Full Text</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Cross1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cross, N. C. P., Tolan, D. R., Cox, T. M.
<strong>Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.</strong>
Cell 53: 881-885, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3383242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3383242</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3383242" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0092-8674(88)90349-2" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
<a id="Davit-Spraul2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Davit-Spraul, A., Costa, C., Zater, M., Habes, D., Berthelot, J., Broue, P., Feillet, F., Bernard, O., Labrune, P., Baussan, C.
<strong>Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.</strong>
Molec. Genet. Metab. 94: 443-447, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18541450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18541450</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18541450" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ymgme.2008.05.003" target="_blank">Full Text</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Edstrom1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Edstrom, C. S.
<strong>Hereditary fructose intolerance in the vomiting infant.</strong>
Pediatrics 85: 600-603, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2314976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2314976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2314976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
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<a id="14" class="mim-anchor"></a>
<a id="Esposito2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Esposito, G., Imperato, M. R., Ieno, L., Sorvillo, R., Benigno, V., Parenti, G., Parini, R., Vitagliano, L., Zagari, A., Salvatore, F.
<strong>Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.</strong>
Hum. Mutat. 31: 1294-1303, 2010.
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[<a href="https://doi.org/10.1002/humu.21359" target="_blank">Full Text</a>]
</p>
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Esposito, G., Vitagliano, L., Santamaria, R., Viola, A., Zagari, A., Salvatore, F.
<strong>Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.</strong>
FEBS Lett. 531: 152-156, 2002.
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[<a href="https://doi.org/10.1016/s0014-5793(02)03451-8" target="_blank">Full Text</a>]
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<a id="Froesch1963" class="mim-anchor"></a>
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<p class="mim-text-font">
Froesch, E. R., Wolf, H. P., Baitsch, H., Prader, A., Labhart, A.
<strong>Hereditary fructose intolerance: an inborn defect of hepatic fructose-1-phosphate splitting aldolase.</strong>
Am. J. Med. 34: 151-167, 1963.
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[<a href="https://doi.org/10.1016/0002-9343(63)90050-0" target="_blank">Full Text</a>]
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<a id="Gitzelmann1974" class="mim-anchor"></a>
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<p class="mim-text-font">
Gitzelmann, R., Steinmann, B., Bally, C., Lebherz, H. G.
<strong>Antibody activation of mutant human fructosediphosphate aldolase B in liver extracts of patients with hereditary fructose intolerance.</strong>
Biochem. Biophys. Res. Commun. 59: 1270-1277, 1974.
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[<a href="https://doi.org/10.1016/0006-291x(74)90451-3" target="_blank">Full Text</a>]
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<a id="Jaeken1996" class="mim-anchor"></a>
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Jaeken, J., Pirard, M., Adamowicz, M., Pronicka, E., Van Schaftingen, E.
<strong>Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.</strong>
Pediat. Res. 40: 764-766, 1996.
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[<a href="https://doi.org/10.1203/00006450-199611000-00017" target="_blank">Full Text</a>]
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<a id="Kajihara1990" class="mim-anchor"></a>
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Kajihara, S., Mukai, T., Arai, Y., Owada, M., Kitagawa, T., Hori, K.
<strong>Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene.</strong>
Am. J. Hum. Genet. 47: 562-567, 1990.
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<a id="20" class="mim-anchor"></a>
<a id="Kohlin1968" class="mim-anchor"></a>
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<p class="mim-text-font">
Kohlin, P., Melin, K.
<strong>Hereditary fructose intolerance in four Swedish families.</strong>
Acta Paediat. Scand. 57: 24-32, 1968.
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[<a href="https://doi.org/10.1111/j.1651-2227.1968.tb07281.x" target="_blank">Full Text</a>]
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<a id="Kranhold1969" class="mim-anchor"></a>
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Kranhold, J. F., Loh, D., Morris, R. C., Jr.
<strong>Renal fructose-metabolizing enzymes: significance in hereditary fructose intolerance.</strong>
Science 165: 402-403, 1969.
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[<a href="https://doi.org/10.1126/science.165.3891.402" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
<a id="Lameire1978" class="mim-anchor"></a>
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Lameire, N., Mussche, M., Baele, G., Kint, J. A., Ringoir, S.
<strong>Hereditary fructose intolerance: a difficult diagnosis in the adult.</strong>
Am. J. Med. 65: 416-423, 1978.
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[<a href="https://doi.org/10.1016/0002-9343(78)90767-2" target="_blank">Full Text</a>]
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<a id="Levin1963" class="mim-anchor"></a>
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Levin, B., Oberholzer, V. G., Snodgrass, G. J. A. I., Stimmler, L., Wilmers, M. J.
<strong>Fructosaemia: an inborn error of fructose metabolism.</strong>
Arch. Dis. Child. 38: 220-230, 1963.
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[<a href="https://doi.org/10.1136/adc.38.199.220" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
<a id="Levin1968" class="mim-anchor"></a>
<div class="">
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Levin, B., Snodgrass, G. J. A. I., Oberholzer, V. G., Burgess, E. A., Dobbs, R. H.
<strong>Fructosaemia: observations on seven cases.</strong>
Am. J. Med. 45: 826-838, 1968.
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[<a href="https://doi.org/10.1016/0002-9343(68)90181-2" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Li, H., Byers, H. M., Diaz-Kuan, A., Vos, M. B., Hall, P. L., Tortorelli, S., Singh, R., Wallenstein, M. B., Allain, M., Dimmock, D. P., Farrell, R. M., McCandless, S., Gambello, M. J.
<strong>Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.</strong>
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[<a href="https://doi.org/10.1016/j.ymgme.2018.02.016" target="_blank">Full Text</a>]
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<a id="Mandel1990" class="mim-anchor"></a>
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<p class="mim-text-font">
Mandel, H., Gozal, D., Aizin, A., Tavori, S., Jaffe, M.
<strong>Haemophagocytosis in hereditary fructose intolerance: a diagnostic dilemma.</strong>
J. Inherit. Metab. Dis. 13: 267-269, 1990.
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[<a href="https://doi.org/10.1007/BF01799369" target="_blank">Full Text</a>]
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<a id="Marks1989" class="mim-anchor"></a>
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Marks, F., Ordorica, S., Hoskins, I., Young, B. K.
<strong>Congenital hereditary fructose intolerance and pregnancy.</strong>
Am. J. Obstet. Gynec. 160: 362-363, 1989.
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[<a href="https://doi.org/10.1016/0002-9378(89)90445-6" target="_blank">Full Text</a>]
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<a id="Mass1966" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mass, R. E., Smith, W. R., Walsh, J. R.
<strong>The association of hereditary fructose intolerance and renal tubular acidosis.</strong>
Am. J. Med. Sci. 251: 516-523, 1966.
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[<a href="https://doi.org/10.1097/00000441-196605000-00003" target="_blank">Full Text</a>]
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<a id="Mock1983" class="mim-anchor"></a>
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Mock, D. M., Perman, J. A., Thaler, M. M., Morris, R. C., Jr.
<strong>Chronic fructose intoxication after infancy in children with hereditary fructose intolerance: a cause of growth retardation.</strong>
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[<a href="https://doi.org/10.1056/NEJM198309293091305" target="_blank">Full Text</a>]
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Nikkila, E. A., Somersalo, O., Pitkanen, E., Perheentupa, J.
<strong>Hereditary fructose intolerance, an inborn deficiency of liver aldolase complex.</strong>
Metabolism 11: 727-731, 1962.
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<a id="Nordmann1968" class="mim-anchor"></a>
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Nordmann, Y., Schapira, F., Dreyfus, J.-C.
<strong>A structurally modified liver aldolase in fructose intolerance: immunological and kinetic evidence.</strong>
Biochem. Biophys. Res. Commun. 31: 884-889, 1968.
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[<a href="https://doi.org/10.1016/0006-291x(68)90534-2" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Oberhaensli, R. D., Rajagopalan, B., Taylor, D. J., Radda, G. K., Collins, J. E., Leonard, J. V., Schwarz, H., Herschkowitz, N.
<strong>Study of hereditary fructose intolerance by use of (31)P magnetic resonance spectroscopy.</strong>
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[<a href="https://doi.org/10.1016/s0140-6736(87)91419-x" target="_blank">Full Text</a>]
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Odievre, M., Gentil, C. I., Gautier, M., Alagille, D.
<strong>Hereditary fructose intolerance in childhood: diagnosis, management, and course in 55 patients.</strong>
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[<a href="https://doi.org/10.1001/archpedi.1978.02120310069014" target="_blank">Full Text</a>]
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Oppelt, S. A., Sennott, E. M., Tolan, D. R.
<strong>Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans.</strong>
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[<a href="https://doi.org/10.1016/j.ymgme.2015.01.001" target="_blank">Full Text</a>]
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<strong>Mapping of a restriction fragment length polymorphism within the human aldolase B gene.</strong>
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[<a href="https://doi.org/10.1007/BF00272375" target="_blank">Full Text</a>]
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<strong>Symptomless hereditary fructose intolerance. (Letter)</strong>
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[<a href="https://doi.org/10.1016/s0140-6736(67)90494-1" target="_blank">Full Text</a>]
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Perheentupa, J.
<strong>Hereditary fructose intolerance (HFI). In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders.</strong>
New York: Academic Press (pub.) 1980. Pp. 617-619.
</p>
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<a id="39" class="mim-anchor"></a>
<a id="Raivio1967" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Raivio, K. O., Perheentupa, J., Nikkila, E. A.
<strong>Aldolase activities in the liver in parents of patients with hereditary fructose intolerance.</strong>
Clin. Chim. Acta 17: 275-279, 1967.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6035549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6035549</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6035549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0009-8981(67)90131-3" target="_blank">Full Text</a>]
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<a id="40" class="mim-anchor"></a>
<a id="Rampa1981" class="mim-anchor"></a>
<div class="">
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Rampa, M., Froesch, E. R.
<strong>Eleven cases of hereditary fructose intolerance in one Swiss family with a pair of monozygotic and of dizygotic twins.</strong>
Helv. Paediat. Acta 36: 317-324, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7196900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7196900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7196900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="41" class="mim-anchor"></a>
<a id="Rennert1970" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rennert, O. M., Greer, M.
<strong>Hereditary fructosemia.</strong>
Neurology 20: 421-425, 1970.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5462234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5462234</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5462234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.20.5.421" target="_blank">Full Text</a>]
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<a id="42" class="mim-anchor"></a>
<a id="Richardson1979" class="mim-anchor"></a>
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Richardson, R. M. A., Little, J. A., Patten, R. L., Goldstein, M. B., Halperin, M. L.
<strong>Pathogenesis of acidosis in hereditary fructose intolerance.</strong>
Metabolism 28: 1133-1138, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/491970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">491970</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=491970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0026-0495(79)90152-5" target="_blank">Full Text</a>]
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<a id="Santamaria1999" class="mim-anchor"></a>
<div class="">
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Santamaria, R., Vitagliano, L., Tamasi, S., Izzo, P., Zancan, L., Zagari, A., Salvatore, F.
<strong>Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications.</strong>
Europ. J. Hum. Genet. 7: 409-414, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10352930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10352930</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10352930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/sj.ejhg.5200299" target="_blank">Full Text</a>]
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<a id="Sebastio1991" class="mim-anchor"></a>
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Sebastio, G., de Franchis, R., Strisciuglio, P., Andria, G., Dionisi Vici, C., Sabetta, G., Gatti, R., Cross, N. C. P., Cox, T. M.
<strong>Aldolase B mutations in Italian families affected by hereditary fructose intolerance.</strong>
J. Med. Genet. 28: 241-243, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1856829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1856829</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1856829" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.28.4.241" target="_blank">Full Text</a>]
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<a id="45" class="mim-anchor"></a>
<a id="Steinmann1981" class="mim-anchor"></a>
<div class="">
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Steinmann, B., Gitzelmann, R.
<strong>The diagnosis of hereditary fructose intolerance.</strong>
Helv. Paediat. Acta 36: 297-316, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6268573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6268573</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6268573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="46" class="mim-anchor"></a>
<a id="Swales1966" class="mim-anchor"></a>
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Swales, J. D., Smith, A. D. M.
<strong>Adult fructose intolerance.</strong>
Quart. J. Med. XXXV: 455-473, 1966.
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<a id="47" class="mim-anchor"></a>
<a id="Tolan1995" class="mim-anchor"></a>
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Tolan, D. R.
<strong>Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.</strong>
Hum. Mutat. 6: 210-218, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8535439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8535439</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8535439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.1380060303" target="_blank">Full Text</a>]
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<a id="48" class="mim-anchor"></a>
<a id="Wolf1959" class="mim-anchor"></a>
<div class="">
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Wolf, H., Zschocke, D., Wedemeyer, F. W., Huebner, W.
<strong>Angeborene hereditaere Fructose-Intoleranz.</strong>
Klin. Wschr. 37: 693-696, 1959.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13673549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13673549</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13673549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01478217" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Hilary J. Vernon - updated : 04/29/2020
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Joanna S. Amberger - updated : 3/25/2015<br>Cassandra L. Kniffin - updated : 3/16/2011<br>Cassandra L. Kniffin - updated : 4/10/2009<br>Marla J. F. O'Neill - updated : 10/30/2006<br>Patricia A. Hartz - updated : 3/3/2003<br>Matthew B. Gross - updated : 3/3/2003<br>Ada Hamosh - updated : 1/23/2002<br>Victor A. McKusick - updated : 2/4/2000<br>Ada Hamosh - updated : 7/15/1999<br>Michael J. Wright - updated : 2/11/1999
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Victor A. McKusick : 6/3/1986
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carol : 06/21/2024
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alopez : 06/12/2024<br>carol : 04/29/2020<br>carol : 05/23/2016<br>carol : 3/26/2015<br>joanna : 3/25/2015<br>wwang : 3/24/2011<br>ckniffin : 3/16/2011<br>ckniffin : 3/16/2011<br>carol : 4/14/2009<br>ckniffin : 4/10/2009<br>terry : 3/3/2009<br>carol : 10/10/2007<br>wwang : 10/30/2006<br>terry : 6/9/2005<br>terry : 4/20/2005<br>carol : 3/17/2004<br>mgross : 3/3/2003<br>mgross : 3/3/2003<br>mgross : 3/3/2003<br>alopez : 1/25/2002<br>terry : 1/23/2002<br>mcapotos : 2/29/2000<br>terry : 2/4/2000<br>alopez : 7/26/1999<br>terry : 7/15/1999<br>mgross : 2/25/1999<br>terry : 2/11/1999<br>carol : 1/28/1999<br>terry : 7/24/1998<br>dkim : 7/17/1998<br>mark : 8/8/1997<br>terry : 8/4/1997<br>mark : 2/6/1996<br>terry : 1/31/1996<br>davew : 8/19/1994<br>jason : 7/27/1994<br>terry : 5/2/1994<br>warfield : 4/15/1994<br>mimadm : 2/19/1994<br>carol : 2/1/1994
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<h3>
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<strong>#</strong> 229600
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FRUCTOSE INTOLERANCE, HEREDITARY; HFI
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<em>Alternative titles; symbols</em>
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FRUCTOSEMIA<br />
FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY<br />
FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY<br />
ALDOLASE B DEFICIENCY<br />
ALDOB DEFICIENCY
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<strong>SNOMEDCT:</strong> 20052008; &nbsp;
<strong>ICD10CM:</strong> E74.12; &nbsp;
<strong>ICD9CM:</strong> 271.2; &nbsp;
<strong>ORPHA:</strong> 469; &nbsp;
<strong>DO:</strong> 9869; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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9q31.1
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Fructose intolerance, hereditary
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229600
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Autosomal recessive
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3
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ALDOB
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612724
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because hereditary fructose intolerance (HFI) is caused by homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB; 612724) on chromosome 9q31.</p>
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<strong>Description</strong>
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<p>Hereditary fructose intolerance (HFI) becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet. Clinical features include recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth retardation. Older patients who survive infancy develop a natural avoidance of sweets and fruits. Ali et al. (1998) provided a detailed review of the biochemical, genetic, and molecular basis of aldolase B deficiency in hereditary fructose intolerance. </p>
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<strong>Clinical Features</strong>
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<p>Chambers and Pratt (1956) first reported fructose intolerance in a 24-year-old woman who complained of nausea, abdominal pain, and faintness after ingesting sugar and fructose. She did not enjoy sweet tastes. The authors termed the phenomenon 'idiosyncrasy to fructose,' and postulated that some of the symptoms resulted from hypoglycemia (Ali et al., 1998). </p><p>Perheentupa and Pitkanen (1962) reported a severely affected infant who had recurrent hypoglycemia and vomiting after weaning, when fructose or sucrose was added to the diet. The symptoms resulted in marked malnutrition. However, the patient's 3-year-old brother only developed hepatomegaly and hypoglycemic shock after an oral test dose of fructose. He was otherwise clinically healthy, but showed a marked aversion to sweets and fruit.</p><p>Froesch et al. (1963) described 2 adults, aged 33 and 39 years, with fructose intolerance. In addition to the aversion to fructose-containing foods, both had a remarkable absence of dental caries. Swales and Smith (1966) described an affected 21-year-old man, and Kohlin and Melin (1968) reported adult cases. </p><p>Mass et al. (1966) reported a patient with fructose intolerance who had developed renal tubular acidosis. It was unclear to the authors whether this was an independent disorder or a complication of the fructosemia. Perheentupa and Raivio (1967) discussed hyperuricemia in this disorder. </p><p>Mandel et al. (1990) reported an infant with fructose intolerance in whom the diagnosis was delayed due to the finding of hemophagocytosis in the bone marrow. The authors noted that most, if not all, patients with fructose intolerance have neonatal hypoglycemia, lactic acidosis, and an abnormal fructose or glycerol loading test. Hypoglycemic attacks occur later in life and are associated with severe hyperuricemia and metabolic acidosis. Therapeutic measures include restriction of fructose intake and avoidance of prolonged fasting, particularly during febrile episodes. </p><p>Ali et al. (1998) noted that infants with fructose intolerance can have a severe reaction, including lethargy, seizures, and coma, if large quantities of sugar are ingested. In addition, persistent intake can lead to chronic toxicity, including liver and kidney damage. Those who survive the early period without correct diagnosis develop a self-protective aversion to the harmful sugars. </p><p>Esposito et al. (2010) reported 2 unrelated patients with fructose intolerance who were determined to be heterozygous for a mutation in the ALDOB gene. One patient with an R46W substitution (612724.0014) had mild hypoglycemia and ketosis after ingestion of fructose and a marked aversion to sweets and fruit. The second patient with a Y343H substitution (612724.0015) was hospitalized for a series of febrile episodes associated with severe liver dysfunction at age 8 months. She died 1 month later from unknown causes. In vitro functional expression studies of both variants showed variably compromised enzyme activity. The report emphasized that heterozygous ALDOB mutations may result in symptoms in some patients. </p><p><strong><em>Clinical Variability</em></strong></p><p>
An adult form of fructose intolerance was reported by Lameire et al. (1978) in a Belgian patient. When a fructose solution was used for intravenous alimentation during management of viral meningitis, a 21-year-old man developed severe illness characterized by acute jaundice, gastrointestinal bleeding, hypoglycemia, proximal tubular acidosis, and disseminated intravascular coagulation. The renal disorder was characterized by glycosuria, amino aciduria, phosphaturia, and bicarbonaturia with high urinary pH despite metabolic acidosis. Liver fructose-1-phosphate aldolase activity was 30% of normal, and fructose-1,6-diphosphate aldolase activity was normal. In classic fructose intolerance, these values are 0 to 6% and 10 to 50% of normal, respectively. Thus, the patient appeared to have a mild form of the disorder, may have been heterozygous, and likely showed manifestations only because of the massive fructose infusion. </p>
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<strong>Biochemical Features</strong>
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<p>Richardson et al. (1979) reported the typical biochemical changes in an 18-year-old man with fructose intolerance after oral ingestion of fructose. He developed fructosemia, hypoglycemia, hypophosphatemia, hyperuricemia, and metabolic acidosis primarily due to lactic acidosis. </p><p>Jaeken et al. (1996) investigated the serum lysosomal enzymes beta-hexosaminidase (HEXA; 606869) and beta-glucuronidase (GUSB; 611499) in 2 patients with hereditary fructose intolerance and found abnormalities identical to those in carbohydrate-deficient glycoprotein syndrome type I (see CDGIb; 602579), but different from those in untreated galactosemia (230400). In studies in rat liver, they found that fructose-1-phosphate was a potent competitive inhibitor of phosphomannose isomerase, the first enzyme of the N-glycosylation pathway, thus explaining the N-glycosylation disturbances in hereditary fructose intolerance. </p>
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<strong>Inheritance</strong>
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<p>Hereditary fructose intolerance is an autosomal recessive disorder (Ali et al., 1998). </p><p>Wolf et al. (1959) reported cases of fructose intolerance in a father and son, but the mother was likely heterozygous. </p><p>Since aldolase B is normally present in kidney and intestinal mucosa as well as in liver, Cox et al. (1982) were able to detect heterozygotes by intestinal biopsy. In a Jewish family, they demonstrated that apparent dominant inheritance was the result of a homozygote-heterozygote mating. </p>
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<strong>Diagnosis</strong>
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<p>In aldolase B-deficient tissues, cytoplasmic accumulation of fructose-1-phosphate leads to sequestration of inorganic phosphate with resulting activation of AMP deaminase that catalyzes the irreversible deamination of AMP to IMP (inosine monophosphate), a precursor of uric acid. In the cytoplasm, AMP, ADP, and ATP are maintained in a state approaching equilibrium. Depletion of tissue ATP occurs through massive degradation to uric acid and impairment of regeneration by oxidative phosphorylation in the mitochondria because of inorganic phosphate depletion. In the cell, ATP exists largely as a 1:1 complex with magnesium. Depletion of ATP in tissues leads to depletion also of magnesium concentration. Oberhaensli et al. (1987) used (31)P magnetic resonance spectroscopy to study the effect of fructose on liver metabolism in patients with this disorder. In heterozygotes, the method could be used to diagnose fructose intolerance and to monitor patient compliance with a restricted diet. Ingestion of small amounts of fructose was followed by an increase in sugar phosphates and decrease in inorganic phosphate in the liver. In heterozygotes, fructose led to accumulation of sugar phosphates and depletion of inorganic phosphate in the liver. Fructose also induced a larger increase in plasma urate in heterozygotes than in control subjects. Heterozygosity for this disorder may predispose to hyperuricemia. </p><p>Edstrom (1990) emphasized hereditary fructose intolerance as the basis of vomiting in infants. Oral administration of a fructose solution resulted in a characteristic decrease in serum glucose and phosphorus within 1 hour. </p><p>Paolella et al. (1987) described a RFLP within the ALDOB gene useful in the study of hereditary fructose intolerance. </p>
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<strong>Clinical Management</strong>
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</div>
<span class="mim-text-font">
<p>Gitzelmann et al. (1974) demonstrated that antiserum against crystallized fructosediphosphate aldolase B from human liver activated the mutant enzyme in liver extracts from 3 patients with hereditary fructose intolerance, but not in 2 others. Both genetic heterogeneity and potential for therapy were suggested. </p><p>Mock et al. (1983) described 2 unrelated boys with hereditary fructose intolerance who had growth retardation, which occurred even though acute symptomatic fructose intoxication was prevented by restriction of dietary fructose. Stringent limitation of fructose intake resulted in accelerated growth. Experimental challenge with fructose caused sustained hyperuricemia and hyperuricosuria and increased plasma and urine levels of magnesium, without symptoms, hypoglycemia, or evidence of hepatic or renal dysfunction. </p><p>Marks et al. (1989) described the obstetrical management of a woman with fructose intolerance. Her first child had failure to thrive and died at 6 months; autopsy showed cirrhosis and pulmonary edema, with a clinical diagnosis of E. coli sepsis. Her second child also had fructose intolerance and died at age 5 years from acquired immunodeficiency syndrome contracted from a neonatal blood transfusion. On a strict fructose-free diet, her third pregnancy proceeded well; the child, who was also found to have fructose intolerance, did well on a fructose-free diet. Diagnosis of fructose intolerance was said to have been verified in the mother by biopsy of the liver. Presumably the father of these children was at least heterozygous for the fructose intolerance gene. </p><p>Li et al. (2018) reported 4 unrelated infants under the age of 6 weeks with undiagnosed hereditary fructose intolerance who developed acute liver failure associated with intake of sucrose-containing infant formulas. Laboratory derangements included lactic acidosis, hypoglycemia, direct hyperbilirubinemia, and elevated PT/PTT. These abnormalities resolved with the introduction of fructose- and sucrose-free formulas. Li et al. (2018) stated that carbohydrate ingredients in infant formulas that are contraindicated in HFI and can trigger onset of symptoms in undiagnosed individuals include fructose, high-fructose corn syrup, sucrose, inulin, and fructooligosaccharides. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In affected individuals from several unrelated families with fructose intolerance, Cross et al. (1988) identified homozygosity for a mutation in the ALDOB gene (A149P; 612724.0001). The findings indicated that this mutation may be a common cause of the disorder. </p><p>Cross and Cox (1990) identified deletions in the aldolase B gene in patients with fructose intolerance. Two were large deletions of 1.65 kb and 1.4 kb, respectively, whereas the third was a small 4-bp deletion (612724.0004). </p><p>Tolan (1995) reviewed 21 ALDOB mutations that had been reported to that time; 15 were single-base substitutions, resulting in 9 amino acid replacements, 4 nonsense codons, and 2 putative splicing defects, and the other 6 were deletions. Recurrent mutations were observed in exons 5 and 9. </p><p>Among 162 patients from 92 families with hereditary fructose intolerance, Davit-Spraul et al. (2008) identified 16 different mutations in the ALDOB gene, including 8 novel mutations. Most of the patients were French. The most common mutations were A149P (64%), A174D (612724.0002) (16%), and N335K (612724.0013) (5%). Screening for these 3 mutations alone confirmed the diagnosis in 69 (75%) of 92 probands. There were no apparent genotype/phenotype correlations. </p><p>In 6 unrelated Italian patients with hereditary fructose intolerance, Esposito et al. (2010) identified a 6.5-kb deletion in the ALDOB gene (612724.0013). The authors could not rule out the possibility of a founder effect. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The incidence of hereditary fructose intolerance in the Caucasian population has been estimated at 1 in 20,000 births (Cross et al., 1990). </p><p>By haplotype analysis, Tolan (1995) demonstrated that the A149P (612724.0001) and A174D (612724.0002) ALDOB mutations originated from a single founder and had achieved a relatively high frequency through genetic drift. </p><p>In the United Kingdom, about 1.3% of neonates carry 1 copy of the A149P mutation (Ali et al., 1998). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Oppelt et al. (2015) found that the phenotype of Aldo2-null mice is a phenocopy of hereditary fructose intolerance. The null mice showed failure to thrive and liver dysfunction that was exacerbated by fructose ingestion. Livers of Aldo2-null mice exhibited rapid onset of hepatic steatosis that could be reversed by removal of fructose from the diet. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>By analogy to galactosemia (230400), Levin et al. (1963) suggested the term 'fructosemia' to refer to hereditary fructose intolerance. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Ali and Cox (1995); Ali et al. (1994); Baerlocher et al. (1978);
Cornblath et al. (1963); Cross and Cox (1989); Esposito et al.
(2002); Kajihara et al. (1990); Kranhold et al. (1969); Levin et al.
(1968); Nikkila et al. (1962); Nordmann et al. (1968); Odievre et al.
(1978); Perheentupa (1980); Raivio et al. (1967); Rampa and Froesch
(1981); Rennert and Greer (1970); Santamaria et al. (1999); Sebastio
et al. (1991); Steinmann and Gitzelmann (1981)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
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Ali, M., Cox, T. M.
<strong>Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. (Letter)</strong>
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Ali, M., Rellos, P., Cox, T. M.
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[Full Text: https://doi.org/10.1136/jmg.35.5.353]
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<p class="mim-text-font">
Ali, M., Tuncman, G., Cross, N. C. P., Vidailhet, M., Bokesoy, I., Gitzelmann, R., Cox, T. M.
<strong>Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.</strong>
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[Full Text: https://doi.org/10.1136/jmg.31.6.499]
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<p class="mim-text-font">
Baerlocher, K., Gitzelmann, R., Steinmann, B., Gitzelmann-Cumarasamy, N.
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<p class="mim-text-font">
Chambers, R. A., Pratt, R. T. C.
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<p class="mim-text-font">
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<p class="mim-text-font">
Cox, T. M., Camilleri, M., O'Donnell, M. W., Chadwick, V. S.
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<p class="mim-text-font">
Cross, N. C. P., Cox, T. M.
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<p class="mim-text-font">
Cross, N. C. P., Cox, T. M.
<strong>Partial aldolase B gene deletions in hereditary fructose intolerance.</strong>
Am. J. Hum. Genet. 47: 101-106, 1990.
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</p>
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<p class="mim-text-font">
Cross, N. C. P., de Franchis, R., Sebastio, G., Dazzo, C., Tolan, D. R., Gregori, C., Odievre, M., Vidailhet, M., Romano, V., Mascali, G., Romano, C., Musumeci, S., Steinmann, B., Gitzelmann, R., Cox, T. M.
<strong>Molecular analysis of aldolase B genes in hereditary fructose intolerance.</strong>
Lancet 335: 306-309, 1990.
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[Full Text: https://doi.org/10.1016/0140-6736(90)90603-3]
</p>
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<p class="mim-text-font">
Cross, N. C. P., Tolan, D. R., Cox, T. M.
<strong>Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.</strong>
Cell 53: 881-885, 1988.
[PubMed: 3383242]
[Full Text: https://doi.org/10.1016/s0092-8674(88)90349-2]
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Davit-Spraul, A., Costa, C., Zater, M., Habes, D., Berthelot, J., Broue, P., Feillet, F., Bernard, O., Labrune, P., Baussan, C.
<strong>Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.</strong>
Molec. Genet. Metab. 94: 443-447, 2008.
[PubMed: 18541450]
[Full Text: https://doi.org/10.1016/j.ymgme.2008.05.003]
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<p class="mim-text-font">
Edstrom, C. S.
<strong>Hereditary fructose intolerance in the vomiting infant.</strong>
Pediatrics 85: 600-603, 1990.
[PubMed: 2314976]
</p>
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<p class="mim-text-font">
Esposito, G., Imperato, M. R., Ieno, L., Sorvillo, R., Benigno, V., Parenti, G., Parini, R., Vitagliano, L., Zagari, A., Salvatore, F.
<strong>Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.</strong>
Hum. Mutat. 31: 1294-1303, 2010.
[PubMed: 20848650]
[Full Text: https://doi.org/10.1002/humu.21359]
</p>
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<p class="mim-text-font">
Esposito, G., Vitagliano, L., Santamaria, R., Viola, A., Zagari, A., Salvatore, F.
<strong>Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.</strong>
FEBS Lett. 531: 152-156, 2002.
[PubMed: 12417303]
[Full Text: https://doi.org/10.1016/s0014-5793(02)03451-8]
</p>
</li>
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<p class="mim-text-font">
Froesch, E. R., Wolf, H. P., Baitsch, H., Prader, A., Labhart, A.
<strong>Hereditary fructose intolerance: an inborn defect of hepatic fructose-1-phosphate splitting aldolase.</strong>
Am. J. Med. 34: 151-167, 1963.
[PubMed: 13959929]
[Full Text: https://doi.org/10.1016/0002-9343(63)90050-0]
</p>
</li>
<li>
<p class="mim-text-font">
Gitzelmann, R., Steinmann, B., Bally, C., Lebherz, H. G.
<strong>Antibody activation of mutant human fructosediphosphate aldolase B in liver extracts of patients with hereditary fructose intolerance.</strong>
Biochem. Biophys. Res. Commun. 59: 1270-1277, 1974.
[PubMed: 4212946]
[Full Text: https://doi.org/10.1016/0006-291x(74)90451-3]
</p>
</li>
<li>
<p class="mim-text-font">
Jaeken, J., Pirard, M., Adamowicz, M., Pronicka, E., Van Schaftingen, E.
<strong>Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.</strong>
Pediat. Res. 40: 764-766, 1996.
[PubMed: 8910943]
[Full Text: https://doi.org/10.1203/00006450-199611000-00017]
</p>
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<p class="mim-text-font">
Kajihara, S., Mukai, T., Arai, Y., Owada, M., Kitagawa, T., Hori, K.
<strong>Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene.</strong>
Am. J. Hum. Genet. 47: 562-567, 1990.
[PubMed: 2203259]
</p>
</li>
<li>
<p class="mim-text-font">
Kohlin, P., Melin, K.
<strong>Hereditary fructose intolerance in four Swedish families.</strong>
Acta Paediat. Scand. 57: 24-32, 1968.
[PubMed: 5637008]
[Full Text: https://doi.org/10.1111/j.1651-2227.1968.tb07281.x]
</p>
</li>
<li>
<p class="mim-text-font">
Kranhold, J. F., Loh, D., Morris, R. C., Jr.
<strong>Renal fructose-metabolizing enzymes: significance in hereditary fructose intolerance.</strong>
Science 165: 402-403, 1969.
[PubMed: 5789437]
[Full Text: https://doi.org/10.1126/science.165.3891.402]
</p>
</li>
<li>
<p class="mim-text-font">
Lameire, N., Mussche, M., Baele, G., Kint, J. A., Ringoir, S.
<strong>Hereditary fructose intolerance: a difficult diagnosis in the adult.</strong>
Am. J. Med. 65: 416-423, 1978.
[PubMed: 213970]
[Full Text: https://doi.org/10.1016/0002-9343(78)90767-2]
</p>
</li>
<li>
<p class="mim-text-font">
Levin, B., Oberholzer, V. G., Snodgrass, G. J. A. I., Stimmler, L., Wilmers, M. J.
<strong>Fructosaemia: an inborn error of fructose metabolism.</strong>
Arch. Dis. Child. 38: 220-230, 1963.
[PubMed: 13930101]
[Full Text: https://doi.org/10.1136/adc.38.199.220]
</p>
</li>
<li>
<p class="mim-text-font">
Levin, B., Snodgrass, G. J. A. I., Oberholzer, V. G., Burgess, E. A., Dobbs, R. H.
<strong>Fructosaemia: observations on seven cases.</strong>
Am. J. Med. 45: 826-838, 1968.
[PubMed: 4235454]
[Full Text: https://doi.org/10.1016/0002-9343(68)90181-2]
</p>
</li>
<li>
<p class="mim-text-font">
Li, H., Byers, H. M., Diaz-Kuan, A., Vos, M. B., Hall, P. L., Tortorelli, S., Singh, R., Wallenstein, M. B., Allain, M., Dimmock, D. P., Farrell, R. M., McCandless, S., Gambello, M. J.
<strong>Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.</strong>
Molec. Genet. Metab. 123: 428-432, 2018.
[PubMed: 29510902]
[Full Text: https://doi.org/10.1016/j.ymgme.2018.02.016]
</p>
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<li>
<p class="mim-text-font">
Mandel, H., Gozal, D., Aizin, A., Tavori, S., Jaffe, M.
<strong>Haemophagocytosis in hereditary fructose intolerance: a diagnostic dilemma.</strong>
J. Inherit. Metab. Dis. 13: 267-269, 1990.
[PubMed: 2122082]
[Full Text: https://doi.org/10.1007/BF01799369]
</p>
</li>
<li>
<p class="mim-text-font">
Marks, F., Ordorica, S., Hoskins, I., Young, B. K.
<strong>Congenital hereditary fructose intolerance and pregnancy.</strong>
Am. J. Obstet. Gynec. 160: 362-363, 1989.
[PubMed: 2916618]
[Full Text: https://doi.org/10.1016/0002-9378(89)90445-6]
</p>
</li>
<li>
<p class="mim-text-font">
Mass, R. E., Smith, W. R., Walsh, J. R.
<strong>The association of hereditary fructose intolerance and renal tubular acidosis.</strong>
Am. J. Med. Sci. 251: 516-523, 1966.
[PubMed: 5933765]
[Full Text: https://doi.org/10.1097/00000441-196605000-00003]
</p>
</li>
<li>
<p class="mim-text-font">
Mock, D. M., Perman, J. A., Thaler, M. M., Morris, R. C., Jr.
<strong>Chronic fructose intoxication after infancy in children with hereditary fructose intolerance: a cause of growth retardation.</strong>
New Eng. J. Med. 309: 764-770, 1983.
[PubMed: 6888454]
[Full Text: https://doi.org/10.1056/NEJM198309293091305]
</p>
</li>
<li>
<p class="mim-text-font">
Nikkila, E. A., Somersalo, O., Pitkanen, E., Perheentupa, J.
<strong>Hereditary fructose intolerance, an inborn deficiency of liver aldolase complex.</strong>
Metabolism 11: 727-731, 1962.
[PubMed: 14479790]
</p>
</li>
<li>
<p class="mim-text-font">
Nordmann, Y., Schapira, F., Dreyfus, J.-C.
<strong>A structurally modified liver aldolase in fructose intolerance: immunological and kinetic evidence.</strong>
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[Full Text: https://doi.org/10.1016/0006-291x(68)90534-2]
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</li>
<li>
<p class="mim-text-font">
Oberhaensli, R. D., Rajagopalan, B., Taylor, D. J., Radda, G. K., Collins, J. E., Leonard, J. V., Schwarz, H., Herschkowitz, N.
<strong>Study of hereditary fructose intolerance by use of (31)P magnetic resonance spectroscopy.</strong>
Lancet 330: 931-934, 1987. Note: Originally Volume II.
[PubMed: 2889861]
[Full Text: https://doi.org/10.1016/s0140-6736(87)91419-x]
</p>
</li>
<li>
<p class="mim-text-font">
Odievre, M., Gentil, C. I., Gautier, M., Alagille, D.
<strong>Hereditary fructose intolerance in childhood: diagnosis, management, and course in 55 patients.</strong>
Am. J. Dis. Child. 132: 605-608, 1978.
[PubMed: 655145]
[Full Text: https://doi.org/10.1001/archpedi.1978.02120310069014]
</p>
</li>
<li>
<p class="mim-text-font">
Oppelt, S. A., Sennott, E. M., Tolan, D. R.
<strong>Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans.</strong>
Molec. Genet. Metab. 114: 445-450, 2015.
[PubMed: 25637246]
[Full Text: https://doi.org/10.1016/j.ymgme.2015.01.001]
</p>
</li>
<li>
<p class="mim-text-font">
Paolella, G., Santamaria, R., Buono, P., Salvatore, F.
<strong>Mapping of a restriction fragment length polymorphism within the human aldolase B gene.</strong>
Hum. Genet. 77: 115-117, 1987.
[PubMed: 2888717]
[Full Text: https://doi.org/10.1007/BF00272375]
</p>
</li>
<li>
<p class="mim-text-font">
Perheentupa, J., Pitkanen, E.
<strong>Symptomless hereditary fructose intolerance. (Letter)</strong>
Lancet 279: 1358-1359, 1962. Note: Originally Volume I.
</p>
</li>
<li>
<p class="mim-text-font">
Perheentupa, J., Raivio, K. O.
<strong>Fructose-induced hyperuricaemia.</strong>
Lancet 290: 528-531, 1967. Note: Originally Volume II.
[PubMed: 4166890]
[Full Text: https://doi.org/10.1016/s0140-6736(67)90494-1]
</p>
</li>
<li>
<p class="mim-text-font">
Perheentupa, J.
<strong>Hereditary fructose intolerance (HFI). In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders.</strong>
New York: Academic Press (pub.) 1980. Pp. 617-619.
</p>
</li>
<li>
<p class="mim-text-font">
Raivio, K. O., Perheentupa, J., Nikkila, E. A.
<strong>Aldolase activities in the liver in parents of patients with hereditary fructose intolerance.</strong>
Clin. Chim. Acta 17: 275-279, 1967.
[PubMed: 6035549]
[Full Text: https://doi.org/10.1016/0009-8981(67)90131-3]
</p>
</li>
<li>
<p class="mim-text-font">
Rampa, M., Froesch, E. R.
<strong>Eleven cases of hereditary fructose intolerance in one Swiss family with a pair of monozygotic and of dizygotic twins.</strong>
Helv. Paediat. Acta 36: 317-324, 1981.
[PubMed: 7196900]
</p>
</li>
<li>
<p class="mim-text-font">
Rennert, O. M., Greer, M.
<strong>Hereditary fructosemia.</strong>
Neurology 20: 421-425, 1970.
[PubMed: 5462234]
[Full Text: https://doi.org/10.1212/wnl.20.5.421]
</p>
</li>
<li>
<p class="mim-text-font">
Richardson, R. M. A., Little, J. A., Patten, R. L., Goldstein, M. B., Halperin, M. L.
<strong>Pathogenesis of acidosis in hereditary fructose intolerance.</strong>
Metabolism 28: 1133-1138, 1979.
[PubMed: 491970]
[Full Text: https://doi.org/10.1016/0026-0495(79)90152-5]
</p>
</li>
<li>
<p class="mim-text-font">
Santamaria, R., Vitagliano, L., Tamasi, S., Izzo, P., Zancan, L., Zagari, A., Salvatore, F.
<strong>Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications.</strong>
Europ. J. Hum. Genet. 7: 409-414, 1999.
[PubMed: 10352930]
[Full Text: https://doi.org/10.1038/sj.ejhg.5200299]
</p>
</li>
<li>
<p class="mim-text-font">
Sebastio, G., de Franchis, R., Strisciuglio, P., Andria, G., Dionisi Vici, C., Sabetta, G., Gatti, R., Cross, N. C. P., Cox, T. M.
<strong>Aldolase B mutations in Italian families affected by hereditary fructose intolerance.</strong>
J. Med. Genet. 28: 241-243, 1991.
[PubMed: 1856829]
[Full Text: https://doi.org/10.1136/jmg.28.4.241]
</p>
</li>
<li>
<p class="mim-text-font">
Steinmann, B., Gitzelmann, R.
<strong>The diagnosis of hereditary fructose intolerance.</strong>
Helv. Paediat. Acta 36: 297-316, 1981.
[PubMed: 6268573]
</p>
</li>
<li>
<p class="mim-text-font">
Swales, J. D., Smith, A. D. M.
<strong>Adult fructose intolerance.</strong>
Quart. J. Med. XXXV: 455-473, 1966.
</p>
</li>
<li>
<p class="mim-text-font">
Tolan, D. R.
<strong>Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.</strong>
Hum. Mutat. 6: 210-218, 1995.
[PubMed: 8535439]
[Full Text: https://doi.org/10.1002/humu.1380060303]
</p>
</li>
<li>
<p class="mim-text-font">
Wolf, H., Zschocke, D., Wedemeyer, F. W., Huebner, W.
<strong>Angeborene hereditaere Fructose-Intoleranz.</strong>
Klin. Wschr. 37: 693-696, 1959.
[PubMed: 13673549]
[Full Text: https://doi.org/10.1007/BF01478217]
</p>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Contributors:
</span>
</div>
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Hilary J. Vernon - updated : 04/29/2020<br>Joanna S. Amberger - updated : 3/25/2015<br>Cassandra L. Kniffin - updated : 3/16/2011<br>Cassandra L. Kniffin - updated : 4/10/2009<br>Marla J. F. O&#x27;Neill - updated : 10/30/2006<br>Patricia A. Hartz - updated : 3/3/2003<br>Matthew B. Gross - updated : 3/3/2003<br>Ada Hamosh - updated : 1/23/2002<br>Victor A. McKusick - updated : 2/4/2000<br>Ada Hamosh - updated : 7/15/1999<br>Michael J. Wright - updated : 2/11/1999
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Victor A. McKusick : 6/3/1986
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carol : 06/21/2024<br>alopez : 06/12/2024<br>carol : 04/29/2020<br>carol : 05/23/2016<br>carol : 3/26/2015<br>joanna : 3/25/2015<br>wwang : 3/24/2011<br>ckniffin : 3/16/2011<br>ckniffin : 3/16/2011<br>carol : 4/14/2009<br>ckniffin : 4/10/2009<br>terry : 3/3/2009<br>carol : 10/10/2007<br>wwang : 10/30/2006<br>terry : 6/9/2005<br>terry : 4/20/2005<br>carol : 3/17/2004<br>mgross : 3/3/2003<br>mgross : 3/3/2003<br>mgross : 3/3/2003<br>alopez : 1/25/2002<br>terry : 1/23/2002<br>mcapotos : 2/29/2000<br>terry : 2/4/2000<br>alopez : 7/26/1999<br>terry : 7/15/1999<br>mgross : 2/25/1999<br>terry : 2/11/1999<br>carol : 1/28/1999<br>terry : 7/24/1998<br>dkim : 7/17/1998<br>mark : 8/8/1997<br>terry : 8/4/1997<br>mark : 2/6/1996<br>terry : 1/31/1996<br>davew : 8/19/1994<br>jason : 7/27/1994<br>terry : 5/2/1994<br>warfield : 4/15/1994<br>mimadm : 2/19/1994<br>carol : 2/1/1994
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