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<meta name="keywords" content="C1847555, disease or syndrome, gdh hyperinsulinism, glud1, glud1 hyperinsulinism, glud1 related hyperinsulinism and hyperammonemia syndrome, glud1-related hyperinsulinism, glutamate dehydrogenase 1 hyperinsulinism, glutamate dehydrogenase 1 related hyperinsulinism and hyperammonemia syndrome, ha/hi syndrome, hhf6, hi/ha syndrome, hyperinsulinemic hypoglycemia familial 6, hyperinsulinemic hypoglycemia, familial, 6, hyperinsulinemic hypoglycemia, familial, type 6, hyperinsulinism and hyperammonemia syndrome, hyperinsulinism hyperammonemia syndrome, hyperinsulinism-hyperammonemia syndrome, hyperinsulinism/hyperammonemia syndrome, 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="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.\n\nThe 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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=376153
|
||
ConceptID=C1847555
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperinsulinism-hyperammonemia syndrome<span class="h1sub">(HHF6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376153</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) Click for more information.">C1847555</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>GLUD1-Related Hyperinsulinism; HA/HI syndrome; HHF6; Hyperinsulinemic hypoglycemia familial 6</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hyperinsulinism and hyperammonemia syndrome (718106009); Glutamate dehydrogenase 1 related hyperinsulinism and hyperammonemia syndrome (718106009); GLUD1 related hyperinsulinism and hyperammonemia syndrome (718106009)</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) 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="GLUD1 - ID: 2746 - NCBI Gene" href="/gene/2746" class="medgenPMinfo">GLUD1</a> (10q23.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011717" target="_blank">MONDO:0011717</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/606762" target="_blank">606762</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&Expert=35878">ORPHA35878</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>
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<div class="portlet mgSection" id="ID_100">
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||
<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">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.<br /><br />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. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_102">
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<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>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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) Click for more information.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870594"><div><strong>Abnormality of the pancreatic islet cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870594</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) Click for more information.">C4025043</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870594">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20pancreatic%20islet%20cells%22%5BClinical%20Features%5D%20OR%20870594%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5710"><div><strong>Hypoglycemic coma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5710</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) Click for more information.">C0020617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coma induced by low blood sugar.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5710">Feature record</a> | <a href="/medgen?term=%22Hypoglycemic%20coma%22%5BClinical%20Features%5D%20OR%205710%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) 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_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867194"><div><strong>Asymptomatic hyperammonemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867194</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) Click for more information.">C4021552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867194">Feature record</a> | <a href="/medgen?term=%22Asymptomatic%20hyperammonemia%22%5BClinical%20Features%5D%20OR%20867194%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) 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(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").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_867194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Asymptomatic hyperammonemia</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_870594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the pancreatic islet cells</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_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_5710" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemic coma</a></span></li><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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</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]&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&from_uid=854723" ref="ncbi_uid=854723">V</a></span></span><span class="TLline"><a href="/medgen/854723" ref="tree=GTR&ncbi_uid=854723&link_uid=854723" title="View MedGen record for 'Familial hyperinsulinism'">Familial hyperinsulinism</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864902[DISCUI]&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&from_uid=351246" ref="ncbi_uid=351246">V</a></span></span><span class="TLline"><a href="/medgen/351246" ref="tree=GTR&ncbi_uid=351246&link_uid=351246" title="View MedGen record for 'Exercise-induced hyperinsulinism'">Exercise-induced hyperinsulinism</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=C2931832[DISCUI]&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&from_uid=419505" ref="ncbi_uid=419505">V</a></span></span><span class="TLline"><a href="/medgen/419505" ref="tree=GTR&ncbi_uid=419505&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]&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&from_uid=419173" ref="ncbi_uid=419173">V</a></span></span><span class="TLline"><a href="/medgen/419173" ref="tree=GTR&ncbi_uid=419173&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]&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&from_uid=400646" ref="ncbi_uid=400646">V</a></span></span><span class="TLline"><a href="/medgen/400646" ref="tree=GTR&ncbi_uid=400646&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]&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&from_uid=355435" ref="ncbi_uid=355435">V</a></span></span><span class="TLline"><a href="/medgen/355435" ref="tree=GTR&ncbi_uid=355435&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]&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&from_uid=355335" ref="ncbi_uid=355335">V</a></span></span><span class="TLline"><a href="/medgen/355335" ref="tree=GTR&ncbi_uid=355335&link_uid=355335" title="View MedGen record for 'Hyperinsulinism due to INSR deficiency'">Hyperinsulinism due to INSR deficiency</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847555[DISCUI]&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&from_uid=376153" ref="ncbi_uid=376153">V</a></span></span><span class="TLline">Hyperinsulinism-hyperammonemia syndrome</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">Hyperinsulinism-hyperammonemia syndrome</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&data_id=156&PatId=10403&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hyperinsulinism-hyperammonemia syndrome</span> in Orphanet.</div></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/26759084">Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarajlija A,
|
||
Milenkovic T,
|
||
Djordjevic M,
|
||
Mitrovic K,
|
||
Todorovic S,
|
||
Kecman B,
|
||
Hussain K</span><br />
|
||
<span class="medgenPMjournal">J Clin Res Pediatr Endocrinol</span>
|
||
2016 Jun 5;8(2):228-31.
|
||
Epub 2015 Dec 18
|
||
doi: 10.4274/jcrpe.2436.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26759084" target="_blank">26759084</a><a href="/pmc/articles/PMC5096481" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21813650">Green tea polyphenols control dysregulated glutamate dehydrogenase in transgenic mice by hijacking the ADP activation site.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li C,
|
||
Li M,
|
||
Chen P,
|
||
Narayan S,
|
||
Matschinsky FM,
|
||
Bennett MJ,
|
||
Stanley CA,
|
||
Smith TJ</span><br />
|
||
<span class="medgenPMjournal">J Biol Chem</span>
|
||
2011 Sep 30;286(39):34164-74.
|
||
Epub 2011 Aug 3
|
||
doi: 10.1074/jbc.M111.268599.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21813650" target="_blank">21813650</a><a href="/pmc/articles/PMC3190766" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21130127">Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stanley CA</span><br />
|
||
<span class="medgenPMjournal">Neurochem Int</span>
|
||
2011 Sep;59(4):465-72.
|
||
Epub 2010 Dec 2
|
||
doi: 10.1016/j.neuint.2010.11.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21130127" target="_blank">21130127</a><a href="/pmc/articles/PMC3081417" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12069542">Persistent hyperinsulinaemic hypoglycaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Lonlay P,
|
||
Touati G,
|
||
Robert JJ,
|
||
Saudubray JM</span><br />
|
||
<span class="medgenPMjournal">Semin Neonatol</span>
|
||
2002 Feb;7(1):95-100.
|
||
doi: 10.1053/siny.2001.0090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12069542" target="_blank">12069542</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9571255">Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stanley CA,
|
||
Lieu YK,
|
||
Hsu BY,
|
||
Burlina AB,
|
||
Greenberg CR,
|
||
Hopwood NJ,
|
||
Perlman K,
|
||
Rich BH,
|
||
Zammarchi E,
|
||
Poncz M</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1998 May 7;338(19):1352-7.
|
||
doi: 10.1056/NEJM199805073381904.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9571255" target="_blank">9571255</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperinsulinism-hyperammonemia%20syndrome%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 (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36695547">Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Safran A,
|
||
Proskorovski-Ohayon R,
|
||
Eskin-Schwartz M,
|
||
Yogev Y,
|
||
Drabkin M,
|
||
Eremenko E,
|
||
Aharoni S,
|
||
Freund O,
|
||
Jean MM,
|
||
Agam N,
|
||
Hadar N,
|
||
Loewenthal N,
|
||
Staretz-Chacham O,
|
||
Birk OS</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 Jul;46(4):744-755.
|
||
Epub 2023 Feb 9
|
||
doi: 10.1002/jimd.12594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36695547" target="_blank">36695547</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34971397">PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shahroor MA,
|
||
Lasorsa FM,
|
||
Porcelli V,
|
||
Dweikat I,
|
||
Di Noia MA,
|
||
Gur M,
|
||
Agostino G,
|
||
Shaag A,
|
||
Rinaldi T,
|
||
Gasparre G,
|
||
Guerra F,
|
||
Castegna A,
|
||
Todisco S,
|
||
Abu-Libdeh B,
|
||
Elpeleg O,
|
||
Palmieri L</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Apr 19;107(5):1346-1356.
|
||
doi: 10.1210/clinem/dgab932.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34971397" target="_blank">34971397</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20936362">The hyperinsulinism/hyperammonemia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palladino AA,
|
||
Stanley CA</span><br />
|
||
<span class="medgenPMjournal">Rev Endocr Metab Disord</span>
|
||
2010 Sep;11(3):171-8.
|
||
doi: 10.1007/s11154-010-9146-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20936362" target="_blank">20936362</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19379266">Hyperammonemia and positive allopurinol test in hyperinsulinism-hyperammonemia syndrome: Taiwanese case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin LC,
|
||
Hwu WL,
|
||
Yang RC</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2009 Apr;51(2):305-7.
|
||
doi: 10.1111/j.1442-200X.2009.02812.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19379266" target="_blank">19379266</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12069542">Persistent hyperinsulinaemic hypoglycaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Lonlay P,
|
||
Touati G,
|
||
Robert JJ,
|
||
Saudubray JM</span><br />
|
||
<span class="medgenPMjournal">Semin Neonatol</span>
|
||
2002 Feb;7(1):95-100.
|
||
doi: 10.1053/siny.2001.0090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12069542" target="_blank">12069542</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperinsulinism-hyperammonemia%20syndrome%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 (32)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36476334">Hyperinsulinism-hyperammonemia syndrome in two Peruvian children with refractory epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Los Santos-La Torre MA,
|
||
Del Águila-Villar CM,
|
||
Lu-de Lama LR,
|
||
Nuñez-Almache O,
|
||
Chávez-Tejada EM,
|
||
Espinoza-Robles OA,
|
||
Pinto-Ibárcena PM,
|
||
Calagua-Quispe MR,
|
||
Azabache-Tafur PM,
|
||
Tucto-Manchego RM</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2023 Feb 23;36(2):207-211.
|
||
Epub 2022 Dec 8
|
||
doi: 10.1515/jpem-2022-0490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36476334" target="_blank">36476334</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27747338">Robust regulation of hepatic pericentral amination by glutamate dehydrogenase kinetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bera S,
|
||
Lamba S,
|
||
Rashid M,
|
||
Sharma AK,
|
||
Medvinsky AB,
|
||
Acquisti C,
|
||
Chakraborty A,
|
||
Li BL</span><br />
|
||
<span class="medgenPMjournal">Integr Biol (Camb)</span>
|
||
2016 Nov 7;8(11):1126-1132.
|
||
doi: 10.1039/c6ib00158k.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27747338" target="_blank">27747338</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21073125">Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de las Heras J,
|
||
Garin I,
|
||
de Nanclares GP,
|
||
Aguayo A,
|
||
Rica I,
|
||
Castaño L,
|
||
Vela A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2010 Aug;23(8):827-30.
|
||
doi: 10.1515/jpem.2010.132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21073125" target="_blank">21073125</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12069542">Persistent hyperinsulinaemic hypoglycaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Lonlay P,
|
||
Touati G,
|
||
Robert JJ,
|
||
Saudubray JM</span><br />
|
||
<span class="medgenPMjournal">Semin Neonatol</span>
|
||
2002 Feb;7(1):95-100.
|
||
doi: 10.1053/siny.2001.0090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12069542" target="_blank">12069542</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11241047">Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hsu BY,
|
||
Kelly A,
|
||
Thornton PS,
|
||
Greenberg CR,
|
||
Dilling LA,
|
||
Stanley CA</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2001 Mar;138(3):383-9.
|
||
doi: 10.1067/mpd.2001.111818.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11241047" target="_blank">11241047</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperinsulinism-hyperammonemia%20syndrome%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27383869">Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ninković D,
|
||
Sarnavka V,
|
||
Bašnec A,
|
||
Ćuk M,
|
||
Ramadža DP,
|
||
Fumić K,
|
||
Kušec V,
|
||
Santer R,
|
||
Barić I</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2016 Sep 1;29(9):1083-8.
|
||
doi: 10.1515/jpem-2016-0086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27383869" target="_blank">27383869</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26839063">A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Odom J,
|
||
Gieron-Korthals M,
|
||
Shulman D,
|
||
Newkirk P,
|
||
Prijoles E,
|
||
Sanchez-Valle A</span><br />
|
||
<span class="medgenPMjournal">J Med Case Rep</span>
|
||
2016 Feb 2;10:25.
|
||
doi: 10.1186/s13256-016-0811-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26839063" target="_blank">26839063</a><a href="/pmc/articles/PMC4738771" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25781533">Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tran C,
|
||
Konstantopoulou V,
|
||
Mecjia M,
|
||
Perlman K,
|
||
Mercimek-Mahmutoglu S,
|
||
Kronick JB</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2015 Jul;28(7-8):873-6.
|
||
doi: 10.1515/jpem-2014-0441.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25781533" target="_blank">25781533</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12069542">Persistent hyperinsulinaemic hypoglycaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Lonlay P,
|
||
Touati G,
|
||
Robert JJ,
|
||
Saudubray JM</span><br />
|
||
<span class="medgenPMjournal">Semin Neonatol</span>
|
||
2002 Feb;7(1):95-100.
|
||
doi: 10.1053/siny.2001.0090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12069542" target="_blank">12069542</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11214910">Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santer R,
|
||
Kinner M,
|
||
Passarge M,
|
||
Superti-Furga A,
|
||
Mayatepek E,
|
||
Meissner T,
|
||
Schneppenheim R,
|
||
Schaub J</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2001 Jan;108(1):66-71.
|
||
doi: 10.1007/s004390000432.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11214910" target="_blank">11214910</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperinsulinism-hyperammonemia%20syndrome%22%20AND%20Prognosis%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 (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36476334">Hyperinsulinism-hyperammonemia syndrome in two Peruvian children with refractory epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Los Santos-La Torre MA,
|
||
Del Águila-Villar CM,
|
||
Lu-de Lama LR,
|
||
Nuñez-Almache O,
|
||
Chávez-Tejada EM,
|
||
Espinoza-Robles OA,
|
||
Pinto-Ibárcena PM,
|
||
Calagua-Quispe MR,
|
||
Azabache-Tafur PM,
|
||
Tucto-Manchego RM</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2023 Feb 23;36(2):207-211.
|
||
Epub 2022 Dec 8
|
||
doi: 10.1515/jpem-2022-0490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36476334" target="_blank">36476334</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35752848">Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenfeld E,
|
||
Nanga RPR,
|
||
Lucas A,
|
||
Revell AY,
|
||
Thomas A,
|
||
Thomas NH,
|
||
Roalf DR,
|
||
Shinohara RT,
|
||
Reddy R,
|
||
Davis KA,
|
||
De León DD</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Jun 25;17(1):248.
|
||
doi: 10.1186/s13023-022-02398-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35752848" target="_blank">35752848</a><a href="/pmc/articles/PMC9233810" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23463419">Deregulation of glutamate dehydrogenase in human neurologic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Plaitakis A,
|
||
Zaganas I,
|
||
Spanaki C</span><br />
|
||
<span class="medgenPMjournal">J Neurosci Res</span>
|
||
2013 Aug;91(8):1007-17.
|
||
Epub 2013 Mar 6
|
||
doi: 10.1002/jnr.23176.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23463419" target="_blank">23463419</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21813650">Green tea polyphenols control dysregulated glutamate dehydrogenase in transgenic mice by hijacking the ADP activation site.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li C,
|
||
Li M,
|
||
Chen P,
|
||
Narayan S,
|
||
Matschinsky FM,
|
||
Bennett MJ,
|
||
Stanley CA,
|
||
Smith TJ</span><br />
|
||
<span class="medgenPMjournal">J Biol Chem</span>
|
||
2011 Sep 30;286(39):34164-74.
|
||
Epub 2011 Aug 3
|
||
doi: 10.1074/jbc.M111.268599.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21813650" target="_blank">21813650</a><a href="/pmc/articles/PMC3190766" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11214910">Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santer R,
|
||
Kinner M,
|
||
Passarge M,
|
||
Superti-Furga A,
|
||
Mayatepek E,
|
||
Meissner T,
|
||
Schneppenheim R,
|
||
Schaub J</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2001 Jan;108(1):66-71.
|
||
doi: 10.1007/s004390000432.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11214910" target="_blank">11214910</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperinsulinism-hyperammonemia%20syndrome%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 (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1847555%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1847555%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (33)</a></li>
|
||
<li><a href="/gtr/tests?term=C1847555%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1847555%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1847555%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (48)</a></li>
|
||
<li><a href="/gtr/tests?term=C1847555%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1847555%5bDISCUI%5d" target="_blank">See all (53)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=606762" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=35878" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hyperinsulinism-hyperammonemia%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=138130" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2746[geneid]" target="_blank">View GLUD1 variations in ClinVar</a></li><li><a href="/nuccore/260593643" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=606762" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Hyperinsulinism-hyperammonemia+syndrome/3568" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hyperinsulinemic_hypoglycemia_familial_6" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hyperinsulinism-hyperammonemia%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/congenital-hyperinsulinism" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9931/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301549" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Hyperinsulinism-hyperammonemia%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Hyperinsulinism-hyperammonemia%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=376153" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=376153" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1847555[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
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