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<meta name="keywords" content="C0016952, disease or syndrome, galactosaemia, galactose intolerance, galactosemia, galactosemias, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia (not covered in this chapter). This GeneReview focuses on: Classic galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and E coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems (termed childhood apraxia of speech and dysarthria), and abnormalities of motor function. Almost all females with classic galactosemia manifest hypergonadatropic hypogonadism or premature ovarian insufficiency (POI). Clinical variant galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage including cirrhosis, and bleeding in untreated infants. This is exemplified by the disease that occurs in African Americans and native Africans in South Africa. Persons with clinical variant galactosemia may be missed with newborn screening as the hypergalactosemia is not as marked as in classic galactosemia and breath testing is normal. If a lactose-restricted diet is provided during the first ten days of life, the severe acute neonatal complications are usually prevented. African Americans with clinical variant galactosemia and adequate early treatment do not appear to be at risk for long-term complications, including POI." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=8943
|
||
ConceptID=C0016952
|
||
-->
|
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<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1518/bin/galactosemia-Image001.gif" src-large="/books/NBK1518/bin/galactosemia-Image001.jpg" /></a><br /><a href="/books/NBK1518/figure/galactosemia.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1518/bin/galactosemia-Image002.gif" src-large="/books/NBK1518/bin/galactosemia-Image002.jpg" /></a><br /><a href="/books/NBK1518/figure/galactosemia.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Galactosemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8943</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.">C0016952</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Galactose intolerance</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Galactosemia (190745006); Galactose intolerance (190749000)</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" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/2592">GALT</a>, <a target="_blank" href="/gene/2584">GALK1</a>, <a target="_blank" href="/gene/2582">GALE</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0004919">HP:0004919</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018116" target="_blank">MONDO:0018116</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS230400" target="_blank">PS230400</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=352">ORPHA352</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1518" target="_blank">Classic Galactosemia and Clinical Variant Galactosemia</a></div><div>The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia (not covered in this chapter). This GeneReview focuses on: Classic galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and E coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems (termed childhood apraxia of speech and dysarthria), and abnormalities of motor function. Almost all females with classic galactosemia manifest hypergonadatropic hypogonadism or premature ovarian insufficiency (POI). Clinical variant galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage including cirrhosis, and bleeding in untreated infants. This is exemplified by the disease that occurs in African Americans and native Africans in South Africa. Persons with clinical variant galactosemia may be missed with newborn screening as the hypergalactosemia is not as marked as in classic galactosemia and breath testing is normal. If a lactose-restricted diet is provided during the first ten days of life, the severe acute neonatal complications are usually prevented. African Americans with clinical variant galactosemia and adequate early treatment do not appear to be at risk for long-term complications, including POI. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1518#galactosemia.Summary" target="NBK1518">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1518#galactosemia.GeneReview_Scope" target="NBK1518">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1518#galactosemia.Diagnosis" target="NBK1518">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1518#galactosemia.Clinical_Characteristics" target="NBK1518">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1518#galactosemia.Genetically_Related_Allelic" target="NBK1518">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1518#galactosemia.Differential_Diagnosis" target="NBK1518">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1518#galactosemia.Management" target="NBK1518">Management</a> | <a class="medgenPMinfo" href="/books/NBK1518#galactosemia.Genetic_Counseling" target="NBK1518">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1518#galactosemia.Resources" target="NBK1518">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1518#galactosemia.Molecular_Genetics" target="NBK1518">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1518#galactosemia.Chapter_Notes" target="NBK1518">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1518#galactosemia.References" target="NBK1518">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Gerard T Berry <a href="/books/NBK1518" target="NBK1518" title="NCBI Bookshelf: Classic Galactosemia and Clinical Variant Galactosemia">view full author information</a></div></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 />Researchers have identified several types of galactosemia. These conditions are each caused by mutations in a particular gene and affect different enzymes involved in breaking down galactose.<br /><br />Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy.<br /><br />Galactosemia type II (also called galactokinase deficiency) and type III (also called galactose epimerase deficiency) cause different patterns of signs and symptoms. Galactosemia type II causes fewer medical problems than the classic type. Affected infants develop cataracts but otherwise experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.<br /><br />Classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, a lack of energy (lethargy), a failure to gain weight and grow as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and abnormal bleeding. Other serious complications of this condition can include overwhelming bacterial infections (sepsis) and shock. Affected children are also at increased risk of delayed development, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may develop reproductive problems caused by an early loss of function of the ovaries (premature ovarian insufficiency). <a target="_blank" href="https://medlineplus.gov/genetics/condition/galactosemia">https://medlineplus.gov/genetics/condition/galactosemia</a></div></div>
|
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</div>
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<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=C0016952[DISCUI]&test_type=Clinical" ref="ncbi_uid=8943">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1518/" ref="ncbi_uid=8943">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=8943" ref="ncbi_uid=8943">V</a></span></span><span class="TLline">Galactosemia</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268155[DISCUI]&test_type=Clinical" ref="ncbi_uid=120614">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=120614" target="_blank" href="/omim/230200">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=120614" ref="ncbi_uid=120614">V</a></span></span><span class="TLline"><a href="/medgen/120614" ref="tree=GTR&ncbi_uid=120614&link_uid=120614" title="View MedGen record for 'Deficiency of galactokinase'">Deficiency of galactokinase</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=C0268151[DISCUI]&test_type=Clinical" ref="ncbi_uid=82777">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82777" target="_blank" href="/omim/230400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1518%20OR%20NBK258640)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=82777">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82777" ref="ncbi_uid=82777">V</a></span></span><span class="TLline"><a href="/medgen/82777" ref="tree=GTR&ncbi_uid=82777&link_uid=82777" title="View MedGen record for 'Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase'">Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase</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=C0751161[DISCUI]&test_type=Clinical" ref="ncbi_uid=199598">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=199598" target="_blank" href="/omim/230350">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK51671/" ref="ncbi_uid=199598">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=199598" ref="ncbi_uid=199598">V</a></span></span><span class="TLline"><a href="/medgen/199598" ref="tree=GTR&ncbi_uid=199598&link_uid=199598" title="View MedGen record for 'UDPglucose-4-epimerase deficiency'">UDPglucose-4-epimerase deficiency</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/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="matched_ds">Galactosemia</span><ul><li><span class="TLline"><a href="/medgen/120614" ref="tree=MeSH" title="MedGen record for Deficiency of galactokinase">Deficiency of galactokinase</a></span></li><li><span class="TLline"><a href="/medgen/82777" ref="tree=MeSH" title="MedGen record for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase">Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase</a></span></li><li><span class="TLline"><a href="/medgen/1718159" ref="tree=MeSH" title="MedGen record for Galactosemia 4">Galactosemia 4</a></span></li><li><span class="TLline"><a href="/medgen/443018" ref="tree=MeSH" title="MedGen record for Transferase Deficiency Galactosemia">Transferase Deficiency Galactosemia</a></span></li><li><span class="TLline"><a href="/medgen/199598" ref="tree=MeSH" title="MedGen record for UDPglucose-4-epimerase deficiency">UDPglucose-4-epimerase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/657805" ref="tree=MeSH" title="MedGen record for Erythrocyte galactose epimerase deficiency">Erythrocyte galactose epimerase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/657804" ref="tree=MeSH" title="MedGen record for Generalized galactose epimerase deficiency">Generalized galactose epimerase deficiency</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></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=355&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Galactosemia</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_341598"><div><strong>Fructose and galactose intolerance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341598</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.">C1856686</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/341598">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fructose and galactose intolerance</a></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/37704344">Newborn Screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pappas KB</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2023 Oct;70(5):1013-1027.
|
||
doi: 10.1016/j.pcl.2023.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37704344" target="_blank">37704344</a></div>
|
||
|
||
<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/35883524">Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Succoio M,
|
||
Sacchettini R,
|
||
Rossi A,
|
||
Parenti G,
|
||
Ruoppolo M</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2022 Jul 11;12(7)
|
||
doi: 10.3390/biom12070968.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35883524" target="_blank">35883524</a><a href="/pmc/articles/PMC9313126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22galactosemia%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 (137)</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/Classical-Galactosemia-ACT-Sheet.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Absent/Reduced Galactose-1-Phosphate Uridyltransferase (GALT), Classic Galactosemia, 2021</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/GALT-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, Galactosemia (GALT Deficiency), 2021</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Galactosemia-Transition.pdf" target="_blank">American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Galactosemia (GALT Deficiency, Classical Galactosemia), 2012</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/38871294">Inborn errors of metabolism and pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murphey K,
|
||
Krishna I,
|
||
Li H</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol MFM</span>
|
||
2024 Aug;6(8):101399.
|
||
Epub 2024 Jun 12
|
||
doi: 10.1016/j.ajogmf.2024.101399.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38871294" target="_blank">38871294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38059869">Pathologically relevant aldoses and environmental aldehydes cause cilium disassembly via formyl group-mediated mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li T,
|
||
Liu M,
|
||
Yu F,
|
||
Yang S,
|
||
Bu W,
|
||
Liu K,
|
||
Yang J,
|
||
Ni H,
|
||
Yang M,
|
||
Yin H,
|
||
Hong R,
|
||
Li D,
|
||
Zhao H,
|
||
Zhou J</span><br />
|
||
<span class="medgenPMjournal">J Mol Cell Biol</span>
|
||
2024 Jul 1;16(1)
|
||
doi: 10.1093/jmcb/mjad079.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38059869" target="_blank">38059869</a><a href="/pmc/articles/PMC11245732" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27858262">International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Welling L,
|
||
Bernstein LE,
|
||
Berry GT,
|
||
Burlina AB,
|
||
Eyskens F,
|
||
Gautschi M,
|
||
Grünewald S,
|
||
Gubbels CS,
|
||
Knerr I,
|
||
Labrune P,
|
||
van der Lee JH,
|
||
MacDonald A,
|
||
Murphy E,
|
||
Portnoi PA,
|
||
Õunap K,
|
||
Potter NL,
|
||
Rubio-Gozalbo ME,
|
||
Spencer JB,
|
||
Timmers I,
|
||
Treacy EP,
|
||
Van Calcar SC,
|
||
Waisbren SE,
|
||
Bosch AM;
|
||
Galactosemia Network (GalNet)</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2017 Mar;40(2):171-176.
|
||
Epub 2016 Nov 17
|
||
doi: 10.1007/s10545-016-9990-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27858262" target="_blank">27858262</a><a href="/pmc/articles/PMC5306419" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23493040">Cryptorchidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee PA,
|
||
Houk CP</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2013 Jun;20(3):210-6.
|
||
doi: 10.1097/MED.0b013e32835ffc7d.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23493040" target="_blank">23493040</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23178071">Circumstances when breastfeeding is contraindicated.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lawrence RM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2013 Feb;60(1):295-318.
|
||
Epub 2012 Oct 30
|
||
doi: 10.1016/j.pcl.2012.09.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23178071" target="_blank">23178071</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Galactosemia%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 (241)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36729281">Inherited Fanconi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albuquerque ALB,
|
||
Dos Santos Borges R,
|
||
Conegundes AF,
|
||
Dos Santos EE,
|
||
Fu FMM,
|
||
Araujo CT,
|
||
Vaz de Castro PAS,
|
||
Simões E Silva AC</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2023 Jul;19(7):619-634.
|
||
Epub 2023 Feb 2
|
||
doi: 10.1007/s12519-023-00685-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36729281" target="_blank">36729281</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35883524">Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Succoio M,
|
||
Sacchettini R,
|
||
Rossi A,
|
||
Parenti G,
|
||
Ruoppolo M</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2022 Jul 11;12(7)
|
||
doi: 10.3390/biom12070968.
|
||
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Rubio-Gozalbo ME,
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Spencer JB,
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Timmers I,
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Treacy EP,
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Van Calcar SC,
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Bernstein LE,
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Gautschi M,
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Treacy EP,
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Van Calcar SC,
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</div>
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<div class="portlet mgSection" id="ID_104">
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<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>
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<div class="portlet_content ln">
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<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Haskovic M,
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Coelho AI,
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Bierau J,
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Vanoevelen JM,
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Steinbusch LKM,
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Zimmermann LJI,
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Villamor-Martinez E,
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Berry GT,
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Rubio-Gozalbo ME</span><br />
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/31627760">Cognitive functioning in patients with classical galactosemia: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hermans ME,
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Welsink-Karssies MM,
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Bosch AM,
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Oostrom KJ,
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Geurtsen GJ</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/31627760" target="_blank">31627760</a><a href="/pmc/articles/PMC6798502" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29580649">Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stroek K,
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Bouva MJ,
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Schielen PCJI,
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Vaz FM,
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Heijboer AC,
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<span class="bold">PMID: </span><a href="/pubmed/29580649" target="_blank">29580649</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27858262">International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Welling L,
|
||
Bernstein LE,
|
||
Berry GT,
|
||
Burlina AB,
|
||
Eyskens F,
|
||
Gautschi M,
|
||
Grünewald S,
|
||
Gubbels CS,
|
||
Knerr I,
|
||
Labrune P,
|
||
van der Lee JH,
|
||
MacDonald A,
|
||
Murphy E,
|
||
Portnoi PA,
|
||
Õunap K,
|
||
Potter NL,
|
||
Rubio-Gozalbo ME,
|
||
Spencer JB,
|
||
Timmers I,
|
||
Treacy EP,
|
||
Van Calcar SC,
|
||
Waisbren SE,
|
||
Bosch AM;
|
||
Galactosemia Network (GalNet)</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2017 Mar;40(2):171-176.
|
||
Epub 2016 Nov 17
|
||
doi: 10.1007/s10545-016-9990-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27858262" target="_blank">27858262</a><a href="/pmc/articles/PMC5306419" target="_blank" class="PubMedFree">Free PMC Article</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,
|
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Del Vecchio MT,
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<span class="medgenPMjournal">BMC Pediatr</span>
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<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%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 (6)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
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|
||
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|
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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|
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|
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<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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0016952%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0016952%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C0016952%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0016952%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0016952%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0016952%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C0016952%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (41)</a></li>
|
||
<li><a href="/gtr/tests?term=C0016952%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (20)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0016952%5bDISCUI%5d" target="_blank">See all (51)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS230400" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=352" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Galactosemia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22galactosemia%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%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/Classical-Galactosemia-ACT-Sheet.pdf">ACMG ACT, 2021</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Absent/Reduced Galactose-1-Phosphate Uridyltransferase (GALT), Classic Galactosemia, 2021</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/GALT-Algorithm.pdf">ACMG Algorithm, 2021</a><div>American College of Medical Genetics and Genomics, Algorithm, Galactosemia (GALT Deficiency), 2021</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Galactosemia-Transition.pdf">ACMG ACT, 2012</a><div>American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Galactosemia (GALT Deficiency, Classical Galactosemia), 2012</div></li></ul></div>
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