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<meta name="keywords" content="C1864902, disease or syndrome, eihi, exercise induced hyperinsulinemic hypoglycemia, exercise-induced hyperinsulinemic hypoglycemia, exercise-induced hyperinsulinism, hhf7, hyperinsulinemic hypoglycemia exercise-induced, hyperinsulinemic hypoglycemia familial 7, hyperinsulinemic hypoglycemia, exercise-induced, hyperinsulinemic hypoglycemia, familial, 7, hyperinsulinemic hypoglycemia, familial, type 7, hyperinsulinism due to monocarboxylate transporter 1 deficiency, hyperinsulinism due to slc16a1 deficiency, mct1 hyperinsulinism, monocarboxylate transporter 1 hyperinsulinism, slc16a1, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.\n\nCongenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Exercise-induced hyperinsulinism (Concept Id: C1864902)
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<!--
UID=351246
ConceptID=C1864902
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Exercise-induced hyperinsulinism<span class="h1sub">(HHF7)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351246</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1864902</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Exercise-induced hyperinsulinemic hypoglycemia; HHF7; Hyperinsulinemic hypoglycemia familial 7</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Exercise-induced hyperinsulinism (715830008); Exercise-induced hyperinsulinemic hypoglycemia (715830008)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0443147</a></dd><dt><span class="dotprefix"></span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="SLC16A1 - ID: 6566 - NCBI Gene" href="/gene/6566" class="medgenPMinfo">SLC16A1</a> (1p13.2)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0012396" target="_blank">MONDO:0012396</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/610021" target="_blank">610021</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=165991">ORPHA165991</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.<br /><br />Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_108598"><div><strong>Pancreatic islet-cell hyperplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108598</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0597167</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/108598">Feature record</a> | <a href="/medgen?term=%22Pancreatic%20islet-cell%20hyperplasia%22%5BClinical%20Features%5D%20OR%20108598%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_164079"><div><strong>Hypoglycemic seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164079</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0877056</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/164079">Feature record</a> | <a href="/medgen?term=%22Hypoglycemic%20seizures%22%5BClinical%20Features%5D%20OR%20164079%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6979"><div><strong>Hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6979</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0020615</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A decreased concentration of glucose in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6979">Feature record</a> | <a href="/medgen?term=%22Hypoglycemia%22%5BClinical%20Features%5D%20OR%206979%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_43779"><div><strong>Hyperinsulinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43779</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0020459</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An increased concentration of insulin in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/43779">Feature record</a> | <a href="/medgen?term=%22Hyperinsulinemia%22%5BClinical%20Features%5D%20OR%2043779%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_351247"><div><strong>Hyperinsulinemic hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351247</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1864903</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An increased concentration of insulin combined with a decreased concentration of glucose in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/351247">Feature record</a> | <a href="/medgen?term=%22Hyperinsulinemic%20hypoglycemia%22%5BClinical%20Features%5D%20OR%20351247%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatic islet-cell hyperplasia</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperinsulinemia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351247" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperinsulinemic hypoglycemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_164079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemic seizures</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3888018[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=854723">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854723" target="_blank" href="/omim/256450">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1375/" ref="ncbi_uid=854723">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=854723" ref="ncbi_uid=854723">V</a></span></span><span class="TLline"><a href="/medgen/854723" ref="tree=GTR&amp;ncbi_uid=854723&amp;link_uid=854723" title="View MedGen record for 'Familial hyperinsulinism'">Familial hyperinsulinism</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864902[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=351246">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=351246" target="_blank" href="/omim/600682">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1375/" ref="ncbi_uid=351246">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=351246" ref="ncbi_uid=351246">V</a></span></span><span class="TLline">Exercise-induced hyperinsulinism</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931832[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=419505">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419505" target="_blank" href="/omim/256450">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1375/" ref="ncbi_uid=419505">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=419505" ref="ncbi_uid=419505">V</a></span></span><span class="TLline"><a href="/medgen/419505" ref="tree=GTR&amp;ncbi_uid=419505&amp;link_uid=419505" title="View MedGen record for 'Hyperinsulinemic hypoglycemia, familial, 1'">Hyperinsulinemic hypoglycemia, familial, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931833[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=419173">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419173" target="_blank" href="/omim/600937">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1375/" ref="ncbi_uid=419173">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=419173" ref="ncbi_uid=419173">V</a></span></span><span class="TLline"><a href="/medgen/419173" ref="tree=GTR&amp;ncbi_uid=419173&amp;link_uid=419173" title="View MedGen record for 'Hyperinsulinemic hypoglycemia, familial, 2'">Hyperinsulinemic hypoglycemia, familial, 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864948[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=400646">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400646" target="_blank" href="/omim/601609">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1375/" ref="ncbi_uid=400646">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=400646" ref="ncbi_uid=400646">V</a></span></span><span class="TLline"><a href="/medgen/400646" ref="tree=GTR&amp;ncbi_uid=400646&amp;link_uid=400646" title="View MedGen record for 'Hyperinsulinemic hypoglycemia, familial, 4'">Hyperinsulinemic hypoglycemia, familial, 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865290[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=355435">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355435" target="_blank" href="/omim/138079">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1375/" ref="ncbi_uid=355435">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=355435" ref="ncbi_uid=355435">V</a></span></span><span class="TLline"><a href="/medgen/355435" ref="tree=GTR&amp;ncbi_uid=355435&amp;link_uid=355435" title="View MedGen record for 'Hyperinsulinism due to glucokinase deficiency'">Hyperinsulinism due to glucokinase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864952[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=355335">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355335" target="_blank" href="/omim/147670">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1375/" ref="ncbi_uid=355335">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=355335" ref="ncbi_uid=355335">V</a></span></span><span class="TLline"><a href="/medgen/355335" ref="tree=GTR&amp;ncbi_uid=355335&amp;link_uid=355335" title="View MedGen record for 'Hyperinsulinism due to INSR deficiency'">Hyperinsulinism due to INSR deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847555[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=376153">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376153" target="_blank" href="/omim/138130">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1375/" ref="ncbi_uid=376153">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=376153" ref="ncbi_uid=376153">V</a></span></span><span class="TLline"><a href="/medgen/376153" ref="tree=GTR&amp;ncbi_uid=376153&amp;link_uid=376153" title="View MedGen record for 'Hyperinsulinism-hyperammonemia syndrome'">Hyperinsulinism-hyperammonemia syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842739" ref="tree=MeSH" title="MedGen record for Diazoxide-sensitive diffuse hyperinsulinism">Diazoxide-sensitive diffuse hyperinsulinism</a></span><ul><li><span class="matched_ds">Exercise-induced hyperinsulinism</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=17595&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Exercise-induced hyperinsulinism</span> in Orphanet.</div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/36040371">Photobiomodulation Therapy on the Treatment of Insulin Resistance: A Narrative Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Magalhães FC,
Ferraresi C</span><br />
<span class="medgenPMjournal">Photobiomodul Photomed Laser Surg</span>
2022 Sep;40(9):597-603.
Epub 2022 Aug 30
doi: 10.1089/photob.2022.0031.
<span class="bold">PMID: </span><a href="/pubmed/36040371" target="_blank">36040371</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34489869">Simulation-Based Evaluation of Treatment Adjustment to Exercise in Type 1 Diabetes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Deichmann J,
Bachmann S,
Burckhardt MA,
Szinnai G,
Kaltenbach HM</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2021;12:723812.
Epub 2021 Aug 19
doi: 10.3389/fendo.2021.723812.
<span class="bold">PMID: </span><a href="/pubmed/34489869" target="_blank">34489869</a><a href="/pmc/articles/PMC8417413" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31493043">Novel Preparations of Glucagon for the Prevention and Treatment of Hypoglycemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hawkes CP,
De Leon DD,
Rickels MR</span><br />
<span class="medgenPMjournal">Curr Diab Rep</span>
2019 Sep 6;19(10):97.
doi: 10.1007/s11892-019-1216-4.
<span class="bold">PMID: </span><a href="/pubmed/31493043" target="_blank">31493043</a><a href="/pmc/articles/PMC6951434" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(exercise-induced%20hyperinsulinism)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (4)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/32409005">Rare causes of hypoglycemia in adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Douillard C,
Jannin A,
Vantyghem MC</span><br />
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
2020 Jun;81(2-3):110-117.
Epub 2020 Apr 10
doi: 10.1016/j.ando.2020.04.003.
<span class="bold">PMID: </span><a href="/pubmed/32409005" target="_blank">32409005</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23121289">When less is more: the forbidden fruits of gene repression in the adult β-cell.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pullen TJ,
Rutter GA</span><br />
<span class="medgenPMjournal">Diabetes Obes Metab</span>
2013 Jun;15(6):503-12.
Epub 2012 Nov 22
doi: 10.1111/dom.12029.
<span class="bold">PMID: </span><a href="/pubmed/23121289" target="_blank">23121289</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exercise-induced%20hyperinsulinism%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39715334">Hypoglycaemia following physical exercise in a patient with novel SLC16A1 variant.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Frampton R,
Lewis D,
Rahman Y,
Tchan M,
Greenfield JR</span><br />
<span class="medgenPMjournal">Eur J Endocrinol</span>
2025 Jan 6;192(1):K1-K5.
doi: 10.1093/ejendo/lvae159.
<span class="bold">PMID: </span><a href="/pubmed/39715334" target="_blank">39715334</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32409005">Rare causes of hypoglycemia in adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Douillard C,
Jannin A,
Vantyghem MC</span><br />
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
2020 Jun;81(2-3):110-117.
Epub 2020 Apr 10
doi: 10.1016/j.ando.2020.04.003.
<span class="bold">PMID: </span><a href="/pubmed/32409005" target="_blank">32409005</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22587661">Hypoglycaemia related to inherited metabolic diseases in adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Douillard C,
Mention K,
Dobbelaere D,
Wemeau JL,
Saudubray JM,
Vantyghem MC</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2012 May 15;7:26.
doi: 10.1186/1750-1172-7-26.
<span class="bold">PMID: </span><a href="/pubmed/22587661" target="_blank">22587661</a><a href="/pmc/articles/PMC3458880" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12502513">Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Otonkoski T,
Kaminen N,
Ustinov J,
Lapatto R,
Meissner T,
Mayatepek E,
Kere J,
Sipilä I</span><br />
<span class="medgenPMjournal">Diabetes</span>
2003 Jan;52(1):199-204.
doi: 10.2337/diabetes.52.1.199.
<span class="bold">PMID: </span><a href="/pubmed/12502513" target="_blank">12502513</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exercise-induced%20hyperinsulinism%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39715334">Hypoglycaemia following physical exercise in a patient with novel SLC16A1 variant.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Frampton R,
Lewis D,
Rahman Y,
Tchan M,
Greenfield JR</span><br />
<span class="medgenPMjournal">Eur J Endocrinol</span>
2025 Jan 6;192(1):K1-K5.
doi: 10.1093/ejendo/lvae159.
<span class="bold">PMID: </span><a href="/pubmed/39715334" target="_blank">39715334</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exercise-induced%20hyperinsulinism%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/23073708">Association of exercise-induced hyperinsulinaemic hypoglycaemia with MCT1-expressing insulinoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marquard J,
Welters A,
Buschmann T,
Barthlen W,
Vogelgesang S,
Klee D,
Krausch M,
Raffel A,
Otter S,
Piemonti L,
Mayatepek E,
Otonkoski T,
Lammert E,
Meissner T</span><br />
<span class="medgenPMjournal">Diabetologia</span>
2013 Jan;56(1):31-5.
Epub 2012 Oct 17
doi: 10.1007/s00125-012-2750-7.
<span class="bold">PMID: </span><a href="/pubmed/23073708" target="_blank">23073708</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17701893">Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Otonkoski T,
Jiao H,
Kaminen-Ahola N,
Tapia-Paez I,
Ullah MS,
Parton LE,
Schuit F,
Quintens R,
Sipilä I,
Mayatepek E,
Meissner T,
Halestrap AP,
Rutter GA,
Kere J</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2007 Sep;81(3):467-74.
Epub 2007 Jul 26
doi: 10.1086/520960.
<span class="bold">PMID: </span><a href="/pubmed/17701893" target="_blank">17701893</a><a href="/pmc/articles/PMC1950828" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exercise-induced%20hyperinsulinism%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1864902%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (20)</a></li>
<li><a href="/gtr/tests?term=C1864902%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C1864902%5bDISCUI%5d&amp;filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
<li><a href="/gtr/tests?term=C1864902%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C1864902%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (21)</a></li>
<li><a href="/gtr/tests?term=C1864902%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1864902%5bDISCUI%5d" target="_blank">See all (27)</a></total></li>
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