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<meta name="keywords" content="C0268186, carbohydrate intolerance, carbohydrate intolerance of glucose galactose, complex carbohydrate intolerance, congenital abnormality, congenital glucose-galactose intolerance, congenital glucose-galactose malabsorption, disease or syndrome, ggm, glucose galactose malabsorption, glucose galactose malabsorption deficiency, glucose-galactose malabsorption, glucose/galactose malabsorption, gm, monosaccharide malabsorption, sglt1 deficiency, slc5a1, 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="Glucose/galactose malabsorption (GGM) is a rare autosomal recessive disorder caused by a defect in glucose and galactose transport across the intestinal brush border. Patients with GGM present with neonatal onset of severe life-threatening watery diarrhea and dehydration. If diagnosed and treated properly, patients can fully recover and show normal growth and development (summary by Xin and Wang, 2011)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=78647
|
||
ConceptID=C0268186
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital glucose-galactose malabsorption<span class="h1sub">(GGM)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78647</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.">C0268186</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Carbohydrate intolerance of glucose galactose; Complex carbohydrate intolerance; GGM; Glucose galactose malabsorption deficiency; Glucose-Galactose Malabsorption; MONOSACCHARIDE MALABSORPTION</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Glucose-galactose malabsorption (190749000); Congenital glucose-galactose malabsorption (27943000); Congenital glucose-galactose intolerance (27943000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive 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="SLC5A1 - ID: 6523 - NCBI Gene" href="/gene/6523" class="medgenPMinfo">SLC5A1</a> (22q12.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011731" target="_blank">MONDO:0011731</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/606824" target="_blank">606824</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=35710">ORPHA35710</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">Glucose/galactose malabsorption (GGM) is a rare autosomal recessive disorder caused by a defect in glucose and galactose transport across the intestinal brush border. Patients with GGM present with neonatal onset of severe life-threatening watery diarrhea and dehydration. If diagnosed and treated properly, patients can fully recover and show normal growth and development (summary by Xin and Wang, 2011). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Glucose-galactose malabsorption is a condition in which the body cannot take in (absorb) the sugars glucose and galactose, which primarily results in severe diarrhea. Beginning in infancy, severe diarrhea results in weight loss and dehydration that can be life-threatening. Small amounts of the simple sugar glucose in the urine (mild glucosuria) may occur in this disorder. Rarely, affected infants develop kidney stones due to deposits of calcium in the kidneys (nephrocalcinosis).<br /><br />The signs and symptoms of glucose-galactose malabsorption appear early in life when affected infants are fed breast milk or regular infant formulas. These foods contain glucose, galactose, and another sugar called lactose that gets broken down into these two sugars. When these sugar-containing foods are ingested by affected individuals, it leads to diarrhea and other health problems. If foods that contain glucose, galactose, and lactose are removed from the diet, the diarrhea stops. <a target="_blank" href="https://medlineplus.gov/genetics/condition/glucose-galactose-malabsorption">https://medlineplus.gov/genetics/condition/glucose-galactose-malabsorption</a></div></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_42267"><div><strong>Glycosuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42267</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.">C0017979</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of glucose in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42267">Feature record</a> | <a href="/medgen?term=%22Glycosuria%22%5BClinical%20Features%5D%20OR%2042267%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_34"><div><strong>Abdominal distention</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>34</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.">C0000731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distention of the abdomen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/34">Feature record</a> | <a href="/medgen?term=%22Abdominal%20distention%22%5BClinical%20Features%5D%20OR%2034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_534742"><div><strong>Hyperactive bowel sounds</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>534742</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.">C0232694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/534742">Feature record</a> | <a href="/medgen?term=%22Hyperactive%20bowel%20sounds%22%5BClinical%20Features%5D%20OR%20534742%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96036"><div><strong>Chronic diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96036</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.">C0401151</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96036">Feature record</a> | <a href="/medgen?term=%22Chronic%20diarrhea%22%5BClinical%20Features%5D%20OR%2096036%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811453"><div><strong>Malabsorption</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811453</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.">C3714745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to absorb one or more nutrients from the intestine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811453">Feature record</a> | <a href="/medgen?term=%22Malabsorption%22%5BClinical%20Features%5D%20OR%20811453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65117"><div><strong>Metabolic acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65117</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.">C0220981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65117">Feature record</a> | <a href="/medgen?term=%22Metabolic%20acidosis%22%5BClinical%20Features%5D%20OR%2065117%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_205119"><div><strong>Hypertonic dehydration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>205119</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.">C1112601</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/205119">Feature record</a> | <a href="/medgen?term=%22Hypertonic%20dehydration%22%5BClinical%20Features%5D%20OR%20205119%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339758"><div><strong>Abnormal oral glucose tolerance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339758</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.">C1847425</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339758">Feature record</a> | <a href="/medgen?term=%22Abnormal%20oral%20glucose%20tolerance%22%5BClinical%20Features%5D%20OR%20339758%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_339758" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal oral glucose tolerance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_205119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertonic dehydration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65117" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metabolic acidosis</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_34" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal distention</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96036" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_534742" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperactive bowel sounds</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malabsorption</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42267" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycosuria</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268186[DISCUI]&test_type=Clinical" ref="ncbi_uid=78647">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78647" target="_blank" href="/omim/182380">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78647" ref="ncbi_uid=78647">V</a></span></span><span class="TLline">Congenital glucose-galactose malabsorption</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826131" ref="tree=MeSH" title="MedGen record for Congenital intestinal transport defect">Congenital intestinal transport defect</a></span><ul><li><span class="matched_ds">Congenital glucose-galactose malabsorption</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=10398&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Congenital glucose-galactose malabsorption</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/34802008">Importance of Early Genetic Sequencing in Neonates Admitted to NICU with Recurrent Hypernatremia: Results of a Prospective Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu L,
|
||
Yang L,
|
||
Yan K,
|
||
Wu B,
|
||
Wang H,
|
||
Zhang R,
|
||
Wang J,
|
||
Cao Y,
|
||
Cheng G,
|
||
Zhou W</span><br />
|
||
<span class="medgenPMjournal">Neonatology</span>
|
||
2022;119(1):103-110.
|
||
Epub 2021 Nov 19
|
||
doi: 10.1159/000519634.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34802008" target="_blank">34802008</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24630509">Congenital glucose-galactose malabsorption: a descriptive study of clinical characteristics and outcome from Western Saudi Arabia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saadah OI,
|
||
Alghamdi SA,
|
||
Sindi HH,
|
||
Alhunaitti H,
|
||
Bin-Taleb YY,
|
||
Alhussaini BH</span><br />
|
||
<span class="medgenPMjournal">Arab J Gastroenterol</span>
|
||
2014 Mar;15(1):21-3.
|
||
Epub 2014 Feb 1
|
||
doi: 10.1016/j.ajg.2014.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24630509" target="_blank">24630509</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10404446">Chronic diarrhoea in infants and young children: causes, clinical features and outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee WS,
|
||
Boey CC</span><br />
|
||
<span class="medgenPMjournal">J Paediatr Child Health</span>
|
||
1999 Jun;35(3):260-3.
|
||
doi: 10.1046/j.1440-1754.1999.00356.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10404446" target="_blank">10404446</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3143819">A carbon-13 breath test to characterize glucose absorption and utilization in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lifschitz CH,
|
||
Boutton TW,
|
||
Carrazza F,
|
||
Beyreiss K,
|
||
Schmitz J,
|
||
Ricour C,
|
||
Shulman R,
|
||
Nichols BL</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
1988 Nov-Dec;7(6):842-7.
|
||
doi: 10.1097/00005176-198811000-00008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3143819" target="_blank">3143819</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20glucose-galactose%20malabsorption%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36263498">Congenital Glucose-Galactose Malabsorption in a Child.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prasad BS,
|
||
Yachha SK</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2022 Oct 15;59(10):811-812.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36263498" target="_blank">36263498</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32946683">Literature review on congenital glucose-galactose malabsorption from 2001 to 2019.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang W,
|
||
Wang L,
|
||
Ma M</span><br />
|
||
<span class="medgenPMjournal">J Paediatr Child Health</span>
|
||
2020 Nov;56(11):1779-1784.
|
||
Epub 2020 Sep 18
|
||
doi: 10.1111/jpc.14702.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32946683" target="_blank">32946683</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28753187">SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Suyufi Y,
|
||
ALSaleem K,
|
||
Al-Mehaidib A,
|
||
Banemai M,
|
||
Aldekhail WM,
|
||
Al-Muhandes A,
|
||
Mohammed M,
|
||
Allam R,
|
||
Jambi A,
|
||
Ramzan K,
|
||
Imtiaz F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2018 Feb;66(2):250-252.
|
||
doi: 10.1097/MPG.0000000000001694.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28753187" target="_blank">28753187</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27783308">Congenital Glucose-Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter Gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atay FY,
|
||
Derme T,
|
||
Uras N,
|
||
Ceylaner G,
|
||
Ceylaner S,
|
||
Sari FN,
|
||
Oguz SS</span><br />
|
||
<span class="medgenPMjournal">Dig Dis Sci</span>
|
||
2017 Jan;62(1):280-281.
|
||
Epub 2016 Oct 25
|
||
doi: 10.1007/s10620-016-4348-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27783308" target="_blank">27783308</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11569998">Congenital glucose galactose malabsorption.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wickramasinghe P,
|
||
Lamabadusuriya SP,
|
||
Lalani HA</span><br />
|
||
<span class="medgenPMjournal">Ceylon Med J</span>
|
||
2001 Mar;46(1):26-7.
|
||
doi: 10.4038/cmj.v46i1.6532.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11569998" target="_blank">11569998</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20glucose-galactose%20malabsorption%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 (18)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31142420">A Rare Cause of Intractable Diarrhea of Infancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ali S,
|
||
Tariq A,
|
||
Ghuncha M</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2019 Jun;29(6):S48-S49.
|
||
doi: 10.29271/jcpsp.2019.06.S48.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31142420" target="_blank">31142420</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28283348">Congenital Glucose-Galactose Malabsorption: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson S,
|
||
Koniaris S,
|
||
Xin B,
|
||
Brooks SS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Health Care</span>
|
||
2017 Jul-Aug;31(4):506-510.
|
||
Epub 2017 Mar 7
|
||
doi: 10.1016/j.pedhc.2017.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28283348" target="_blank">28283348</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4067776">Digestion and absorption rates of lactose, glucose, galactose, and fructose in three infants with congenital glucose-galactose malabsorption: perfusion studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beyreiss K,
|
||
Hoepffner W,
|
||
Scheerschmidt G,
|
||
Müller F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
1985 Dec;4(6):887-92.
|
||
doi: 10.1097/00005176-198512000-00007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4067776" target="_blank">4067776</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20glucose-galactose%20malabsorption%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34802008">Importance of Early Genetic Sequencing in Neonates Admitted to NICU with Recurrent Hypernatremia: Results of a Prospective Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu L,
|
||
Yang L,
|
||
Yan K,
|
||
Wu B,
|
||
Wang H,
|
||
Zhang R,
|
||
Wang J,
|
||
Cao Y,
|
||
Cheng G,
|
||
Zhou W</span><br />
|
||
<span class="medgenPMjournal">Neonatology</span>
|
||
2022;119(1):103-110.
|
||
Epub 2021 Nov 19
|
||
doi: 10.1159/000519634.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34802008" target="_blank">34802008</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32946683">Literature review on congenital glucose-galactose malabsorption from 2001 to 2019.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang W,
|
||
Wang L,
|
||
Ma M</span><br />
|
||
<span class="medgenPMjournal">J Paediatr Child Health</span>
|
||
2020 Nov;56(11):1779-1784.
|
||
Epub 2020 Sep 18
|
||
doi: 10.1111/jpc.14702.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32946683" target="_blank">32946683</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28283348">Congenital Glucose-Galactose Malabsorption: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson S,
|
||
Koniaris S,
|
||
Xin B,
|
||
Brooks SS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Health Care</span>
|
||
2017 Jul-Aug;31(4):506-510.
|
||
Epub 2017 Mar 7
|
||
doi: 10.1016/j.pedhc.2017.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28283348" target="_blank">28283348</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22843301">Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vallaeys L,
|
||
Van Biervliet S,
|
||
De Bruyn G,
|
||
Loeys B,
|
||
Moring AS,
|
||
Van Deynse E,
|
||
Cornette L</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2013 Mar;172(3):409-11.
|
||
Epub 2012 Jul 29
|
||
doi: 10.1007/s00431-012-1802-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22843301" target="_blank">22843301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19852331">A case of neonatal diarrhoea caused by congenital glucose-galactose malabsorption.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee WS,
|
||
Tay CG,
|
||
Nazrul N,
|
||
Paed M,
|
||
Chai PF</span><br />
|
||
<span class="medgenPMjournal">Med J Malaysia</span>
|
||
2009 Mar;64(1):83-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19852331" target="_blank">19852331</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20glucose-galactose%20malabsorption%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34802008">Importance of Early Genetic Sequencing in Neonates Admitted to NICU with Recurrent Hypernatremia: Results of a Prospective Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu L,
|
||
Yang L,
|
||
Yan K,
|
||
Wu B,
|
||
Wang H,
|
||
Zhang R,
|
||
Wang J,
|
||
Cao Y,
|
||
Cheng G,
|
||
Zhou W</span><br />
|
||
<span class="medgenPMjournal">Neonatology</span>
|
||
2022;119(1):103-110.
|
||
Epub 2021 Nov 19
|
||
doi: 10.1159/000519634.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34802008" target="_blank">34802008</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19852331">A case of neonatal diarrhoea caused by congenital glucose-galactose malabsorption.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee WS,
|
||
Tay CG,
|
||
Nazrul N,
|
||
Paed M,
|
||
Chai PF</span><br />
|
||
<span class="medgenPMjournal">Med J Malaysia</span>
|
||
2009 Mar;64(1):83-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19852331" target="_blank">19852331</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/745864">Absorption of glucose and maltose in congenital glucose-galactose malabsorption.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fairclough PD,
|
||
Clark ML,
|
||
Dawson AM,
|
||
Silk DB,
|
||
Milla PJ,
|
||
Harries JT</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
1978 Dec;12(12):1112-4.
|
||
doi: 10.1203/00006450-197812000-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/745864" target="_blank">745864</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20glucose-galactose%20malabsorption%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 (3)</a></div></div>
|
||
</div>
|
||
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|
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|
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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<div class="rightCol mgCol">
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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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0268186%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268186%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268186%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268186%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268186%5bDISCUI%5d" target="_blank">See all (23)</a></total></li>
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<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=606824" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=35710" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20glucose-galactose%20malabsorption" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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