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<meta name="keywords" content="C5394377, deficiency of galactose mutarotase, disease or syndrome, galac4, galactose mutarotase deficiency, galactosemia 4, galactosemia iv, galactosemia type 4, galm, galm (galactose mutarotase) deficiency, galm deficiency, galm mutarotase deficiency, 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="Galactosemia IV (GALAC4) is an inborn error of galactose metabolism that presents in the neonatal period. Of the 8 affected children that have thus far been reported, none had gastrointestinal symptoms or severe liver dysfunction. Two had bilateral cataracts. All had normal growth and development (summary by Wada et al., 2019). For a discussion of genetic heterogeneity of galactosemia, see GALAC1 (230400)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1718159
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||
ConceptID=C5394377
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Galactosemia 4<span class="h1sub">(GALAC4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718159</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."><span class="highlight" style="background-color:">C5394377</span></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>GALACTOSE MUTAROTASE DEFICIENCY; GALACTOSEMIA IV</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Galactosemia type 4 (1187616008); GALM (galactose mutarotase) deficiency (1187616008); Deficiency of galactose mutarotase (1187616008)</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="GALM - ID: 130589 - NCBI Gene" href="/gene/130589" class="medgenPMinfo">GALM</a> (2p22.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030105" target="_blank">MONDO:0030105</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618881" target="_blank">618881</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=570422">ORPHA570422</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">Galactosemia IV (GALAC4) is an inborn error of galactose metabolism that presents in the neonatal period. Of the 8 affected children that have thus far been reported, none had gastrointestinal symptoms or severe liver dysfunction. Two had bilateral cataracts. All had normal growth and development (summary by Wada et al., 2019). For a discussion of genetic heterogeneity of galactosemia, see GALAC1 (230400). [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_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_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</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.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347108"><div><strong>Prolonged neonatal jaundice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347108</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.">C1859236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347108">Feature record</a> | <a href="/medgen?term=%22Prolonged%20neonatal%20jaundice%22%5BClinical%20Features%5D%20OR%20347108%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892325"><div><strong>Hypergalactosemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892325</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.">C4023071</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Elevated concentration of galactose in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892325">Feature record</a> | <a href="/medgen?term=%22Hypergalactosemia%22%5BClinical%20Features%5D%20OR%20892325%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39462"><div><strong>Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39462</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.">C0086543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen?term=%22Cataract%22%5BClinical%20Features%5D%20OR%2039462%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_892325" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypergalactosemia</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_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347108" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged neonatal jaundice</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract</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_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</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></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=C5394377[DISCUI]&test_type=Clinical" ref="ncbi_uid=1718159">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1718159" target="_blank" href="/omim/137030">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=1718159" ref="ncbi_uid=1718159">V</a></span></span><span class="TLline">Galactosemia 4</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/156005" ref="tree=MeSH" title="MedGen record for Brain Diseases, Metabolic, Inborn">Brain Diseases, Metabolic, Inborn</a></span><ul><li><span class="TLline"><a href="/medgen/8943" ref="tree=MeSH" title="MedGen record for Galactosemia">Galactosemia</a></span><ul><li><span class="matched_ds">Galactosemia 4</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/15906705">Newborn screening in the Philippines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Padilla CD</span><br />
|
||
<span class="medgenPMjournal">Southeast Asian J Trop Med Public Health</span>
|
||
2003;34 Suppl 3:87-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15906705" target="_blank">15906705</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22galactosemia%204%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Galactose-ACT-Sheet.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated total galactose with normal GALT enzyme activity, Primary or Secondary Hypergalactosemia, 2022</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Hypergalactosemia-Algorithm.pdf" target="_blank">American College of Medical Genetics Algorithm, Primary or Secondary Hypergalactosemia (Galactose Elevated)</a></h3>
|
||
<h3 class="nl vspace"><a href="http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Newborn-Screening-ACT-Sheet-Increased-Total-Galactose-with-normal-GALTPrimary-or-Secondary-Hypergala.aspx" target="_blank">American College of Medical Genetics ACT Sheet, Newborn Screening ACT Sheet Primary or Secondary Hypergalactosemia</a></h3>
|
||
</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/29215423">GALT Deficiency Galactosemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson S</span><br />
|
||
<span class="medgenPMjournal">MCN Am J Matern Child Nurs</span>
|
||
2018 Jan/Feb;43(1):44-51.
|
||
doi: 10.1097/NMC.0000000000000388.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29215423" target="_blank">29215423</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23397528">Congenital portosystemic shunts in children: recognition, evaluation, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernard O,
|
||
Franchi-Abella S,
|
||
Branchereau S,
|
||
Pariente D,
|
||
Gauthier F,
|
||
Jacquemin E</span><br />
|
||
<span class="medgenPMjournal">Semin Liver Dis</span>
|
||
2012 Nov;32(4):273-87.
|
||
Epub 2013 Feb 8
|
||
doi: 10.1055/s-0032-1329896.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23397528" target="_blank">23397528</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2122117">Cataract and metabolic disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Endres W,
|
||
Shin YS</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1990;13(4):509-16.
|
||
doi: 10.1007/BF01799508.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2122117" target="_blank">2122117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3906069">Perinatal galactose metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kliegman RM,
|
||
Sparks JW</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1985 Dec;107(6):831-41.
|
||
doi: 10.1016/s0022-3476(85)80173-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3906069" target="_blank">3906069</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4348859">Galactose metabolism and its regulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohn RM,
|
||
Segal S</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
1973 Apr;22(4):627-42.
|
||
doi: 10.1016/0026-0495(73)90078-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4348859" target="_blank">4348859</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Galactosemia%204%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 (136)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36615667">The Importance of Neonatal Screening for Galactosemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Badiu Tișa I,
|
||
Achim AC,
|
||
Cozma-Petruț A</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2022 Dec 20;15(1)
|
||
doi: 10.3390/nu15010010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36615667" target="_blank">36615667</a><a href="/pmc/articles/PMC9823668" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29409891">Hereditary galactosemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Demirbas D,
|
||
Coelho AI,
|
||
Rubio-Gozalbo ME,
|
||
Berry GT</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
2018 Jun;83:188-196.
|
||
Epub 2018 Jan 31
|
||
doi: 10.1016/j.metabol.2018.01.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29409891" target="_blank">29409891</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7005846">Neonatal screening tests.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mamunes P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
1980 Nov;27(4):733-51.
|
||
doi: 10.1016/s0031-3955(16)33923-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7005846" target="_blank">7005846</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4593296">Genetic screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levy HL</span><br />
|
||
<span class="medgenPMjournal">Adv Hum Genet</span>
|
||
1973;4:1-104.
|
||
doi: 10.1007/978-1-4615-8261-8_1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4593296" target="_blank">4593296</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4900353">Sugar intolerance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Darmawan S</span><br />
|
||
<span class="medgenPMjournal">Paediatr Indones</span>
|
||
1969 Jul-Aug;9(4):178-94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4900353" target="_blank">4900353</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Galactosemia%204%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 (240)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26001656">Galactose metabolism and health.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coelho AI,
|
||
Berry GT,
|
||
Rubio-Gozalbo ME</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Clin Nutr Metab Care</span>
|
||
2015 Jul;18(4):422-7.
|
||
doi: 10.1097/MCO.0000000000000189.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26001656" target="_blank">26001656</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24279733">Purple sweet potato colour--a potential therapy for galactosemia?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Timson DJ</span><br />
|
||
<span class="medgenPMjournal">Int J Food Sci Nutr</span>
|
||
2014 Jun;65(4):391-3.
|
||
Epub 2013 Nov 26
|
||
doi: 10.3109/09637486.2013.860586.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24279733" target="_blank">24279733</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3202649">Transient neonatal galactosaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taylor CJ,
|
||
Rattenbury JM,
|
||
Allen JC,
|
||
Tulloh R</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1988 Nov;63(11):1388-90.
|
||
doi: 10.1136/adc.63.11.1388.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3202649" target="_blank">3202649</a><a href="/pmc/articles/PMC1779167" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4414786">Neonatal jaundice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scheig R</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
1974 Oct;10(4):158-64.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4414786" target="_blank">4414786</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4349061">Hypoglycemia in infancy and childhood. II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pagliara AS,
|
||
Karl IE,
|
||
Haymond M,
|
||
Kipnis DM</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1973 Apr;82(4):558-77.
|
||
doi: 10.1016/s0022-3476(73)80581-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4349061" target="_blank">4349061</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Galactosemia%204%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 (52)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36615667">The Importance of Neonatal Screening for Galactosemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Badiu Tișa I,
|
||
Achim AC,
|
||
Cozma-Petruț A</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2022 Dec 20;15(1)
|
||
doi: 10.3390/nu15010010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36615667" target="_blank">36615667</a><a href="/pmc/articles/PMC9823668" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30875330">Classical galactosemia patients can achieve high IQ scores.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iakovou K,
|
||
Dotsikas Y,
|
||
Loukas YL,
|
||
Schulpis KH</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2019 Apr 24;32(4):399-401.
|
||
doi: 10.1515/jpem-2018-0515.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30875330" target="_blank">30875330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25521987">Hepatic focal nodular hyperplasia with congenital portosystemic shunt.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cho Y,
|
||
Shimono T,
|
||
Morikawa H,
|
||
Shintaku H,
|
||
Tokuhara D</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2014 Dec;56(6):e102-e105.
|
||
doi: 10.1111/ped.12456.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25521987" target="_blank">25521987</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10457302">Classical galactosaemia in Chinese: A case report and review of disease incidence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheung KL,
|
||
Tang NL,
|
||
Hsiao KJ,
|
||
Law LK,
|
||
Wong W,
|
||
Ng PC,
|
||
Pang CP,
|
||
Applegarth DA,
|
||
Fok TF,
|
||
Hjelm NM</span><br />
|
||
<span class="medgenPMjournal">J Paediatr Child Health</span>
|
||
1999 Aug;35(4):399-400.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10457302" target="_blank">10457302</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3906069">Perinatal galactose metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kliegman RM,
|
||
Sparks JW</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1985 Dec;107(6):831-41.
|
||
doi: 10.1016/s0022-3476(85)80173-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3906069" target="_blank">3906069</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Galactosemia%204%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 (74)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32004446">Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wortmann SB,
|
||
Meunier B,
|
||
Mestek-Boukhibar L,
|
||
van den Broek F,
|
||
Maldonado EM,
|
||
Clement E,
|
||
Weghuber D,
|
||
Spenger J,
|
||
Jaros Z,
|
||
Taha F,
|
||
Yue WW,
|
||
Heales SJ,
|
||
Davison JE,
|
||
Mayr JA,
|
||
Rahman S</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2020 Feb 6;106(2):256-263.
|
||
Epub 2020 Jan 30
|
||
doi: 10.1016/j.ajhg.2020.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32004446" target="_blank">32004446</a><a href="/pmc/articles/PMC7010975" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31677975">Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magalhães APPS,
|
||
Burin MG,
|
||
Souza CFM,
|
||
de Bitencourt FH,
|
||
Sebastião FM,
|
||
Silva TO,
|
||
Vairo FPE,
|
||
Schwartz IVD</span><br />
|
||
<span class="medgenPMjournal">J Pediatr (Rio J)</span>
|
||
2020 Nov-Dec;96(6):710-716.
|
||
Epub 2019 Oct 31
|
||
doi: 10.1016/j.jped.2019.05.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31677975" target="_blank">31677975</a><a href="/pmc/articles/PMC9432258" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30875330">Classical galactosemia patients can achieve high IQ scores.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iakovou K,
|
||
Dotsikas Y,
|
||
Loukas YL,
|
||
Schulpis KH</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2019 Apr 24;32(4):399-401.
|
||
doi: 10.1515/jpem-2018-0515.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30875330" target="_blank">30875330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25521987">Hepatic focal nodular hyperplasia with congenital portosystemic shunt.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cho Y,
|
||
Shimono T,
|
||
Morikawa H,
|
||
Shintaku H,
|
||
Tokuhara D</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2014 Dec;56(6):e102-e105.
|
||
doi: 10.1111/ped.12456.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25521987" target="_blank">25521987</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3328119">Galactosaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sardharwalla IB,
|
||
Wraith JE</span><br />
|
||
<span class="medgenPMjournal">Nutr Health</span>
|
||
1987;5(3-4):175-88.
|
||
doi: 10.1177/026010608700500408.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3328119" target="_blank">3328119</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Galactosemia%204%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 (109)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39912448">Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ilgaz F,
|
||
Höller A,
|
||
Marsaux C,
|
||
Banta-Wright S,
|
||
Coşkun T,
|
||
Dingess KA,
|
||
Jörg-Streller M,
|
||
Newby C,
|
||
Singh R,
|
||
Stahl B,
|
||
Szwec C,
|
||
van Wegberg A,
|
||
Woestenenk W,
|
||
MacDonald A,
|
||
Karall D</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2025 Mar;48(2):e70001.
|
||
doi: 10.1002/jimd.70001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39912448" target="_blank">39912448</a><a href="/pmc/articles/PMC11800321" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31808946">Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haskovic M,
|
||
Coelho AI,
|
||
Bierau J,
|
||
Vanoevelen JM,
|
||
Steinbusch LKM,
|
||
Zimmermann LJI,
|
||
Villamor-Martinez E,
|
||
Berry GT,
|
||
Rubio-Gozalbo ME</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2020 May;43(3):392-408.
|
||
Epub 2020 Jan 14
|
||
doi: 10.1002/jimd.12202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31808946" target="_blank">31808946</a><a href="/pmc/articles/PMC7317974" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27116003">Appropriateness of newborn screening for classic galactosaemia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varela-Lema L,
|
||
Paz-Valinas L,
|
||
Atienza-Merino G,
|
||
Zubizarreta-Alberdi R,
|
||
Villares RV,
|
||
López-García M</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2016 Sep;39(5):633-649.
|
||
Epub 2016 Apr 26
|
||
doi: 10.1007/s10545-016-9936-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27116003" target="_blank">27116003</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26589959">Etiologies of conjugated hyperbilirubinemia in infancy: a systematic review of 1692 subjects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gottesman LE,
|
||
Del Vecchio MT,
|
||
Aronoff SC</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2015 Nov 20;15:192.
|
||
doi: 10.1186/s12887-015-0506-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26589959" target="_blank">26589959</a><a href="/pmc/articles/PMC4654877" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Galactosemia%204%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</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">
|
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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 id="my-toc"></ul></div>
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|
||
|
||
<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=C5394377%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C5394377%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5394377%5bDISCUI%5d" target="_blank">See all (3)</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=618881" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=570422" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Galactosemia%204" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22galactosemia%204%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Galactosemia%204%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Galactose-ACT-Sheet.pdf">ACMG ACT, 2022</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated total galactose with normal GALT enzyme activity, Primary or Secondary Hypergalactosemia, 2022</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Hypergalactosemia-Algorithm.pdf">ACMG Algorithm, 2022</a><div>American College of Medical Genetics Algorithm, Primary or Secondary Hypergalactosemia (Galactose Elevated)</div></li><li><a target="_blank" href="http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Newborn-Screening-ACT-Sheet-Increased-Total-Galactose-with-normal-GALTPrimary-or-Secondary-Hypergala.aspx">ACMG ACT, 2022</a><div>American College of Medical Genetics ACT Sheet, Newborn Screening ACT Sheet Primary or Secondary Hypergalactosemia</div></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=137030" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=130589[geneid]" target="_blank">View GALM variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=618881" 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="https://www.malacards.org/card/galactosemia_iv" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Galactosemia%204" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18005/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>
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||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Galactosemia%204" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Galactosemia%204%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" 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=1718159" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1718159" ref="log$=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=C5394377[DISCUI]" ref="log$=recordlinks">GTR</a>
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