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<meta name="keywords" content="C1855371, dbt, disease or syndrome, maple syrup urine disease type 2, maple syrup urine disease, type 2, maple syrup urine disease, type ii, msud type 2, msud2, 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="Maple syrup urine disease (MSUD) is categorized as classic (severe), intermediate, or intermittent. Neonates with classic MSUD are born asymptomatic but without treatment follow a predictable course: 12–24 hours. Elevated concentrations of branched-chain amino acids (BCAAs; leucine, isoleucine, and valine) and alloisoleucine, as well as a generalized disturbance of amino acid concentration ratios, are present in blood and the maple syrup odor can be detected in cerumen; Two to three days. Early and nonspecific signs of metabolic intoxication (i.e., irritability, hypersomnolence, anorexia) are accompanied by the presence of branched-chain alpha-ketoacids, acetoacetate, and beta-hydroxybutyrate in urine; Four to six days. Worsening encephalopathy manifests as lethargy, apnea, opisthotonos, and reflexive "fencing" or "bicycling" movements as the sweet maple syrup odor becomes apparent in urine; Seven to ten days. Severe intoxication culminates in critical cerebral edema, coma, and central respiratory failure. Individuals with intermediate MSUD have partial branched-chain alpha-ketoacid dehydrogenase deficiency that manifests only intermittently or responds to dietary thiamine therapy; these individuals can experience severe metabolic intoxication and encephalopathy in the face of sufficient catabolic stress. In the era of newborn screening (NBS), the prompt initiation of treatment of asymptomatic infants detected by NBS means that most individuals who would have developed neonatal manifestations of MSUD remain asymptomatic with continued treatment adherence." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=343337
|
||
ConceptID=C1855371
|
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-->
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<!--imgCountBooks = 4--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (4)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1319/bin/msud-Image002.gif" src-large="/books/NBK1319/bin/msud-Image002.jpg" /></a><br /><a href="/books/NBK1319/figure/msud.F4/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1319/bin/msud-Image001.gif" src-large="/books/NBK1319/bin/msud-Image001.jpg" /></a><br /><a href="/books/NBK1319/figure/msud.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1319/bin/msud-Image003.gif" src-large="/books/NBK1319/bin/msud-Image003.jpg" /></a><br /><a href="/books/NBK1319/figure/msud.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1319/bin/msud-Image004.gif" src-large="/books/NBK1319/bin/msud-Image004.jpg" /></a><br /><a href="/books/NBK1319/figure/msud.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Maple syrup urine disease type 2<span class="h1sub">(MSUD2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343337</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.">C1855371</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>Maple syrup urine disease, type II; MSUD type 2; MSUD2</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="DBT - ID: 1629 - NCBI Gene" href="/gene/1629" class="medgenPMinfo">DBT</a> (1p21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0023693" target="_blank">MONDO:0023693</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620699" target="_blank">620699</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/NBK1319" target="_blank">Maple Syrup Urine Disease</a></div><div>Maple syrup urine disease (MSUD) is categorized as classic (severe), intermediate, or intermittent. Neonates with classic MSUD are born asymptomatic but without treatment follow a predictable course: 12–24 hours. Elevated concentrations of branched-chain amino acids (BCAAs; leucine, isoleucine, and valine) and alloisoleucine, as well as a generalized disturbance of amino acid concentration ratios, are present in blood and the maple syrup odor can be detected in cerumen; Two to three days. Early and nonspecific signs of metabolic intoxication (i.e., irritability, hypersomnolence, anorexia) are accompanied by the presence of branched-chain alpha-ketoacids, acetoacetate, and beta-hydroxybutyrate in urine; Four to six days. Worsening encephalopathy manifests as lethargy, apnea, opisthotonos, and reflexive "fencing" or "bicycling" movements as the sweet maple syrup odor becomes apparent in urine; Seven to ten days. Severe intoxication culminates in critical cerebral edema, coma, and central respiratory failure. Individuals with intermediate MSUD have partial branched-chain alpha-ketoacid dehydrogenase deficiency that manifests only intermittently or responds to dietary thiamine therapy; these individuals can experience severe metabolic intoxication and encephalopathy in the face of sufficient catabolic stress. In the era of newborn screening (NBS), the prompt initiation of treatment of asymptomatic infants detected by NBS means that most individuals who would have developed neonatal manifestations of MSUD remain asymptomatic with continued treatment adherence. [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/NBK1319#msud.Summary" target="NBK1319">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1319#msud.Diagnosis" target="NBK1319">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1319#msud.Clinical_Characteristics" target="NBK1319">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1319#msud.Genetically_Related_Allelic_Disorde" target="NBK1319">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1319#msud.Differential_Diagnosis" target="NBK1319">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1319#msud.Management" target="NBK1319">Management</a> | <a class="medgenPMinfo" href="/books/NBK1319#msud.Genetic_Counseling" target="NBK1319">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1319#msud.Resources" target="NBK1319">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1319#msud.Molecular_Genetics" target="NBK1319">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1319#msud.Chapter_Notes" target="NBK1319">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1319#msud.References" target="NBK1319">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Kevin A Strauss | Erik G Puffenberger | Vincent J Carson <a href="/books/NBK1319" target="NBK1319" title="NCBI Bookshelf: Maple Syrup Urine Disease">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 OMIM</strong><br />The major clinical features of maple syrup urine disease (MSUD) are mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids (BCAA) are present in the urine, resulting from a block in oxidative decarboxylation. There are 4 clinical subtypes of MSUD2: the classic neonatal severe form, an intermediate form, an intermittent form, and a thiamine-responsive form (Chuang and Shih, 2001). The classic form is manifested within the first 2 weeks of life with poor feeding, lethargy, seizures, coma, and death if untreated. Intermediate MSUD is associated with elevated BCAAs and BCKA, with progressive mental retardation and developmental delay without a history of catastrophic illness. The diagnosis is usually delayed for many months. An intermittent form of MSUD may have normal levels of BCAAs, normal intelligence and development until a stress, e.g., infection, precipitates decompensation with ketoacidosis and neurologic symptoms, which are usually reversed with dietary treatment. Thiamine-responsive MSUD is similar to the intermediate phenotype but responds to pharmacologic doses of thiamine with normalization of BCAAs (Chuang et al., 1995).
|
||
For general phenotypic information and a discussion of genetic heterogeneity of MSUD, see MSUD1A (248600). <a target="_blank" href="http://www.omim.org/entry/620699">http://www.omim.org/entry/620699</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_7310"><div><strong>Lethargy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7310</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.">C0023380</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7310">Feature record</a> | <a href="/medgen?term=%22Lethargy%22%5BClinical%20Features%5D%20OR%207310%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56246"><div><strong>Opisthotonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56246</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.">C0151818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56246">Feature record</a> | <a href="/medgen?term=%22Opisthotonus%22%5BClinical%20Features%5D%20OR%2056246%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_67434"><div><strong>Ketoacidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67434</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.">C0220982</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Acidosis resulting from accumulation of ketone bodies.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/67434">Feature record</a> | <a href="/medgen?term=%22Ketoacidosis%22%5BClinical%20Features%5D%20OR%2067434%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">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67434" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ketoacidosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethargy</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Opisthotonus</a></span></li></ul></li></ul></div></div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5886841[DISCUI]&test_type=Clinical" ref="ncbi_uid=1857273">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1857273" ref="tree=GTR&ncbi_uid=1857273&link_uid=1857273" title="View MedGen record for 'Disorder of amino acid metabolism'">Disorder of amino acid metabolism</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268547[DISCUI]&test_type=Clinical" ref="ncbi_uid=78687">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78687" target="_blank" href="/omim/207900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1217%20OR%20NBK51784)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=78687">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78687" ref="ncbi_uid=78687">V</a></span></span><span class="TLline"><a href="/medgen/78687" ref="tree=GTR&ncbi_uid=78687&link_uid=78687" title="View MedGen record for 'Argininosuccinate lyase deficiency'">Argininosuccinate lyase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4721769[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648491">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648491" target="_blank" href="/omim/215700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1217%20OR%20NBK1458)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=1648491">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648491" ref="ncbi_uid=1648491">V</a></span></span><span class="TLline"><a href="/medgen/1648491" ref="tree=GTR&ncbi_uid=1648491&link_uid=1648491" title="View MedGen record for 'Citrullinemia type I'">Citrullinemia type I</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=C0019880[DISCUI]&test_type=Clinical" ref="ncbi_uid=42485">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=42485" ref="ncbi_uid=42485">V</a></span></span><span class="TLline"><a href="/medgen/42485" ref="tree=GTR&ncbi_uid=42485&link_uid=42485" title="View MedGen record for 'Homocystinuria'">Homocystinuria</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=C0024776[DISCUI]&test_type=Clinical" ref="ncbi_uid=6217">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/NBK1319/" ref="ncbi_uid=6217">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6217" ref="ncbi_uid=6217">V</a></span></span><span class="TLline"><a href="/medgen/6217" ref="tree=GTR&ncbi_uid=6217&link_uid=6217" title="View MedGen record for 'Maple syrup urine disease'">Maple syrup urine disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/78690" ref="tree=GTR&ncbi_uid=78690&link_uid=78690" title="View MedGen record for 'Intermittent maple syrup urine disease'">Intermittent maple syrup urine disease</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855371[DISCUI]&test_type=Clinical" ref="ncbi_uid=343337">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343337" target="_blank" href="/omim/248610">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1319/" ref="ncbi_uid=343337">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343337" ref="ncbi_uid=343337">V</a></span></span><span class="TLline">Maple syrup urine disease type 2</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855369[DISCUI]&test_type=Clinical" ref="ncbi_uid=383668">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=383668" target="_blank" href="/omim/248600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1319/" ref="ncbi_uid=383668">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=383668" ref="ncbi_uid=383668">V</a></span></span><span class="TLline"><a href="/medgen/383668" ref="tree=GTR&ncbi_uid=383668&link_uid=383668" title="View MedGen record for 'Maple syrup urine disease type 1A'">Maple syrup urine disease type 1A</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=C2930990[DISCUI]&test_type=Clinical" ref="ncbi_uid=443951">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=443951" target="_blank" href="/omim/248611">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1319/" ref="ncbi_uid=443951">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=443951" ref="ncbi_uid=443951">V</a></span></span><span class="TLline"><a href="/medgen/443951" ref="tree=GTR&ncbi_uid=443951&link_uid=443951" title="View MedGen record for 'Maple syrup urine disease type 1B'">Maple syrup urine disease type 1B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/199627" ref="tree=GTR&ncbi_uid=199627&link_uid=199627" title="View MedGen record for 'Thiamine-responsive maple syrup urine disease'">Thiamine-responsive maple syrup urine disease</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0031485[DISCUI]&test_type=Clinical" ref="ncbi_uid=19244">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/NBK1504/" ref="ncbi_uid=19244">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=19244" ref="ncbi_uid=19244">V</a></span></span><span class="TLline"><a href="/medgen/19244" ref="tree=GTR&ncbi_uid=19244&link_uid=19244" title="View MedGen record for 'Phenylketonuria'">Phenylketonuria</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751434[DISCUI]&test_type=Clinical" ref="ncbi_uid=199655">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=199655" target="_blank" href="/omim/261600">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=199655" ref="ncbi_uid=199655">V</a></span></span><span class="TLline"><a href="/medgen/199655" ref="tree=GTR&ncbi_uid=199655&link_uid=199655" title="View MedGen record for 'Classical phenylketonuria'">Classical phenylketonuria</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=C0268465[DISCUI]&test_type=Clinical" ref="ncbi_uid=75682">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75682" target="_blank" href="/omim/261630">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=75682" ref="ncbi_uid=75682">V</a></span></span><span class="TLline"><a href="/medgen/75682" ref="tree=GTR&ncbi_uid=75682&link_uid=75682" title="View MedGen record for 'Dihydropteridine reductase deficiency'">Dihydropteridine reductase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=88435" target="_blank" href="/omim/261600">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/88435" ref="tree=GTR&ncbi_uid=88435&link_uid=88435" title="View MedGen record for 'Maternal phenylketonuria'">Maternal phenylketonuria</a></span></li><li class="TLclosed"><span class="TLline"><a href="/medgen/1843033" ref="tree=GTR&ncbi_uid=1843033&link_uid=1843033" title="View MedGen record for 'Mild hyperphenylalaninemia'">Mild hyperphenylalaninemia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842357" ref="tree=GTR&ncbi_uid=1842357&link_uid=1842357" title="View MedGen record for 'Mild phenylketonuria'">Mild phenylketonuria</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842546" ref="tree=GTR&ncbi_uid=1842546&link_uid=1842546" title="View MedGen record for 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria'">Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268490[DISCUI]&test_type=Clinical" ref="ncbi_uid=75688">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75688" target="_blank" href="/omim/276700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1515/" ref="ncbi_uid=75688">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75688" ref="ncbi_uid=75688">V</a></span></span><span class="TLline"><a href="/medgen/75688" ref="tree=GTR&ncbi_uid=75688&link_uid=75688" title="View MedGen record for 'Tyrosinemia type I'">Tyrosinemia type I</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="TLline"><a href="/medgen/6217" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease">Maple syrup urine disease</a></span><ul><li><span class="matched_ds">Maple syrup urine disease type 2</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/36724346">Development of a Universal Second-Tier Newborn Screening LC-MS/MS Method for Amino Acids, Lysophosphatidylcholines, and Organic Acids.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kilgore MB,
|
||
Platis D,
|
||
Lim T,
|
||
Isenberg S,
|
||
Pickens CA,
|
||
Cuthbert C,
|
||
Petritis K</span><br />
|
||
<span class="medgenPMjournal">Anal Chem</span>
|
||
2023 Feb 14;95(6):3187-3194.
|
||
Epub 2023 Feb 1
|
||
doi: 10.1021/acs.analchem.2c03098.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36724346" target="_blank">36724346</a><a href="/pmc/articles/PMC9933048" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34288399">Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Medina MF,
|
||
Castro G,
|
||
Falcon F,
|
||
Cabello JF,
|
||
Faundes V,
|
||
Ruffato D,
|
||
Salazar MF,
|
||
Arias C,
|
||
Peñaloza F,
|
||
De La Parra A,
|
||
Cornejo V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2021 Sep;187(3):373-380.
|
||
Epub 2021 Jul 21
|
||
doi: 10.1002/ajmg.c.31933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34288399" target="_blank">34288399</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31241292">Epidemiology of rare diseases detected by newborn screening in the Czech Republic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">David J,
|
||
Chrastina P,
|
||
Pešková K,
|
||
Kožich V,
|
||
Friedecký D,
|
||
Adam T,
|
||
Hlídková E,
|
||
Vinohradská H,
|
||
Novotná D,
|
||
Hedelová M,
|
||
Al Taji E,
|
||
Holubová A,
|
||
Skalická V,
|
||
Macek M,
|
||
Gaillyová R,
|
||
Votava F</span><br />
|
||
<span class="medgenPMjournal">Cent Eur J Public Health</span>
|
||
2019 Jun;27(2):153-159.
|
||
doi: 10.21101/cejph.a5441.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31241292" target="_blank">31241292</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(maple%20syrup%20urine%20disease%20type%202)%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 (6)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37008993">Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hassan A</span><br />
|
||
<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
|
||
2023;13:9.
|
||
Epub 2023 Mar 28
|
||
doi: 10.5334/tohm.747.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37008993" target="_blank">37008993</a><a href="/pmc/articles/PMC10064912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36588190">Long-term results of liver transplantation for maple syrup urine disease: A single-center experience in Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aras A,
|
||
Avanaz A,
|
||
Inan Aydemir N,
|
||
Kayaalp E,
|
||
Ulgen Tekerek N,
|
||
Kisaoglu A,
|
||
Demiryilmaz I,
|
||
Soyucen E,
|
||
Dursun O,
|
||
Yilmaz A,
|
||
Artan R,
|
||
Aydinli B</span><br />
|
||
<span class="medgenPMjournal">Pediatr Transplant</span>
|
||
2023 May;27(3):e14464.
|
||
Epub 2023 Jan 1
|
||
doi: 10.1111/petr.14464.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36588190" target="_blank">36588190</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34288399">Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Medina MF,
|
||
Castro G,
|
||
Falcon F,
|
||
Cabello JF,
|
||
Faundes V,
|
||
Ruffato D,
|
||
Salazar MF,
|
||
Arias C,
|
||
Peñaloza F,
|
||
De La Parra A,
|
||
Cornejo V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2021 Sep;187(3):373-380.
|
||
Epub 2021 Jul 21
|
||
doi: 10.1002/ajmg.c.31933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34288399" target="_blank">34288399</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34187135">Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang HH,
|
||
Guo Y,
|
||
Shen X,
|
||
Wang Y,
|
||
Dai TT,
|
||
Rong H,
|
||
Cheng R,
|
||
Zhao F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2021 Sep 27;34(9):1147-1156.
|
||
Epub 2021 Jun 30
|
||
doi: 10.1515/jpem-2020-0746.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34187135" target="_blank">34187135</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10880718">Diagnosis of inborn errors of metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Velázquez A,
|
||
Vela-Amieva M,
|
||
Cicerón-Arellano I,
|
||
Ibarra-González I,
|
||
Pérez-Andrade ME,
|
||
Olivares-Sandoval Z,
|
||
Jiménez-Sánchez G</span><br />
|
||
<span class="medgenPMjournal">Arch Med Res</span>
|
||
2000 Mar-Apr;31(2):145-50.
|
||
doi: 10.1016/s0188-4409(00)00053-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10880718" target="_blank">10880718</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Maple%20syrup%20urine%20disease%20type%202%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 (25)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37008993">Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hassan A</span><br />
|
||
<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
|
||
2023;13:9.
|
||
Epub 2023 Mar 28
|
||
doi: 10.5334/tohm.747.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37008993" target="_blank">37008993</a><a href="/pmc/articles/PMC10064912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35449147">Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thistlethwaite LR,
|
||
Li X,
|
||
Burrage LC,
|
||
Riehle K,
|
||
Hacia JG,
|
||
Braverman N,
|
||
Wangler MF,
|
||
Miller MJ,
|
||
Elsea SH,
|
||
Milosavljevic A</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Apr 21;12(1):6556.
|
||
doi: 10.1038/s41598-022-10415-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35449147" target="_blank">35449147</a><a href="/pmc/articles/PMC9023513" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34288399">Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Medina MF,
|
||
Castro G,
|
||
Falcon F,
|
||
Cabello JF,
|
||
Faundes V,
|
||
Ruffato D,
|
||
Salazar MF,
|
||
Arias C,
|
||
Peñaloza F,
|
||
De La Parra A,
|
||
Cornejo V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2021 Sep;187(3):373-380.
|
||
Epub 2021 Jul 21
|
||
doi: 10.1002/ajmg.c.31933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34288399" target="_blank">34288399</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34187135">Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang HH,
|
||
Guo Y,
|
||
Shen X,
|
||
Wang Y,
|
||
Dai TT,
|
||
Rong H,
|
||
Cheng R,
|
||
Zhao F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2021 Sep 27;34(9):1147-1156.
|
||
Epub 2021 Jun 30
|
||
doi: 10.1515/jpem-2020-0746.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34187135" target="_blank">34187135</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10880718">Diagnosis of inborn errors of metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Velázquez A,
|
||
Vela-Amieva M,
|
||
Cicerón-Arellano I,
|
||
Ibarra-González I,
|
||
Pérez-Andrade ME,
|
||
Olivares-Sandoval Z,
|
||
Jiménez-Sánchez G</span><br />
|
||
<span class="medgenPMjournal">Arch Med Res</span>
|
||
2000 Mar-Apr;31(2):145-50.
|
||
doi: 10.1016/s0188-4409(00)00053-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10880718" target="_blank">10880718</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Maple%20syrup%20urine%20disease%20type%202%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 (34)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37085971">Twin Premature Infants With Riboflavin and Biotin Deficiency Presenting With Refractory Lactic Acidosis, Rash, and Multiorgan Failure During Prolonged Parenteral Nutrition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adie MA,
|
||
Martes Gomez M,
|
||
Yom J,
|
||
Durand M,
|
||
Wertheimer F,
|
||
McGowan R,
|
||
Yano S,
|
||
Ramanathan R</span><br />
|
||
<span class="medgenPMjournal">J Investig Med High Impact Case Rep</span>
|
||
2023 Jan-Dec;11:23247096231168111.
|
||
doi: 10.1177/23247096231168111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37085971" target="_blank">37085971</a><a href="/pmc/articles/PMC10126694" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37008993">Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hassan A</span><br />
|
||
<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
|
||
2023;13:9.
|
||
Epub 2023 Mar 28
|
||
doi: 10.5334/tohm.747.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37008993" target="_blank">37008993</a><a href="/pmc/articles/PMC10064912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22420616">The implementation of neonatal peritoneal dialysis in a clinical setting.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Unal S,
|
||
Bilgin L,
|
||
Gunduz M,
|
||
Uncu N,
|
||
Azili MN,
|
||
Tiryaki T</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2012 Oct;25(10):2111-4.
|
||
Epub 2012 Mar 16
|
||
doi: 10.3109/14767058.2012.665105.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22420616" target="_blank">22420616</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9239422">E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chuang JL,
|
||
Cox RP,
|
||
Chuang DT</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
1997 Aug 1;100(3):736-44.
|
||
doi: 10.1172/JCI119586.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9239422" target="_blank">9239422</a><a href="/pmc/articles/PMC508243" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6954481">Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chuang DT,
|
||
Ku LS,
|
||
Cox RP</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
1982 May;79(10):3300-4.
|
||
doi: 10.1073/pnas.79.10.3300.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6954481" target="_blank">6954481</a><a href="/pmc/articles/PMC346403" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Maple%20syrup%20urine%20disease%20type%202%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34288399">Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Medina MF,
|
||
Castro G,
|
||
Falcon F,
|
||
Cabello JF,
|
||
Faundes V,
|
||
Ruffato D,
|
||
Salazar MF,
|
||
Arias C,
|
||
Peñaloza F,
|
||
De La Parra A,
|
||
Cornejo V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2021 Sep;187(3):373-380.
|
||
Epub 2021 Jul 21
|
||
doi: 10.1002/ajmg.c.31933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34288399" target="_blank">34288399</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34187135">Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang HH,
|
||
Guo Y,
|
||
Shen X,
|
||
Wang Y,
|
||
Dai TT,
|
||
Rong H,
|
||
Cheng R,
|
||
Zhao F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2021 Sep 27;34(9):1147-1156.
|
||
Epub 2021 Jun 30
|
||
doi: 10.1515/jpem-2020-0746.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34187135" target="_blank">34187135</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34096551">Orthopaedic Problems in 35 Patients With Organic Acid Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prasad N,
|
||
Gottlich C,
|
||
Nhan D,
|
||
Hamosh A,
|
||
Sponseller PD</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2021 Jul 1;41(6):e457-e463.
|
||
doi: 10.1097/BPO.0000000000001812.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34096551" target="_blank">34096551</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32193832">Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun WH,
|
||
Wu BB,
|
||
Wang YQ,
|
||
Wu MY,
|
||
Dong XR,
|
||
Zhang YP,
|
||
Lu W,
|
||
Zhang P,
|
||
Yang B,
|
||
Zhang M,
|
||
Wu HJ,
|
||
Zhou WH</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2020 Aug;16(4):401-410.
|
||
Epub 2020 Mar 19
|
||
doi: 10.1007/s12519-020-00349-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32193832" target="_blank">32193832</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9546032">Maple syrup urine disease: it has come a long way.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chuang DT</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1998 Mar;132(3 Pt 2):S17-23.
|
||
doi: 10.1016/s0022-3476(98)70523-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9546032" target="_blank">9546032</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Maple%20syrup%20urine%20disease%20type%202%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 (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39456016">Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lakkhana P,
|
||
Tim-Aroon T,
|
||
Khongkraparn A,
|
||
Noojarern S,
|
||
Wongkittichote P,
|
||
Wichajarn K,
|
||
Kuptanon C,
|
||
Boonyawat B,
|
||
Suphapeetiporn K,
|
||
Wejaphikul K,
|
||
Seo G,
|
||
Wattanasirichaigoon D</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Oct 25;19(1):396.
|
||
doi: 10.1186/s13023-024-03411-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39456016" target="_blank">39456016</a><a href="/pmc/articles/PMC11515341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35449147">Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thistlethwaite LR,
|
||
Li X,
|
||
Burrage LC,
|
||
Riehle K,
|
||
Hacia JG,
|
||
Braverman N,
|
||
Wangler MF,
|
||
Miller MJ,
|
||
Elsea SH,
|
||
Milosavljevic A</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Apr 21;12(1):6556.
|
||
doi: 10.1038/s41598-022-10415-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35449147" target="_blank">35449147</a><a href="/pmc/articles/PMC9023513" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32785952">Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bösch F,
|
||
Landolt MA,
|
||
Baumgartner MR,
|
||
Zeltner N,
|
||
Kölker S,
|
||
Gleich F,
|
||
Burlina A,
|
||
Cazzorla C,
|
||
Packman W,
|
||
V D Schwartz I,
|
||
Vieira Neto E,
|
||
Ribeiro MG,
|
||
Martinelli D,
|
||
Olivieri G,
|
||
Huemer M</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2021 Jan;44(1):215-225.
|
||
Epub 2020 Sep 22
|
||
doi: 10.1002/jimd.12301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32785952" target="_blank">32785952</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32193832">Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun WH,
|
||
Wu BB,
|
||
Wang YQ,
|
||
Wu MY,
|
||
Dong XR,
|
||
Zhang YP,
|
||
Lu W,
|
||
Zhang P,
|
||
Yang B,
|
||
Zhang M,
|
||
Wu HJ,
|
||
Zhou WH</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2020 Aug;16(4):401-410.
|
||
Epub 2020 Mar 19
|
||
doi: 10.1007/s12519-020-00349-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32193832" target="_blank">32193832</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29306928">Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeynalzadeh M,
|
||
Tafazoli A,
|
||
Aarabi A,
|
||
Moghaddassian M,
|
||
Ashrafzadeh F,
|
||
Houshmand M,
|
||
Taghehchian N,
|
||
Abbaszadegan MR</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2018 Jan 26;31(2):205-212.
|
||
doi: 10.1515/jpem-2017-0305.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29306928" target="_blank">29306928</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Maple%20syrup%20urine%20disease%20type%202%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 (16)</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/37008993">Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hassan A</span><br />
|
||
<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
|
||
2023;13:9.
|
||
Epub 2023 Mar 28
|
||
doi: 10.5334/tohm.747.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37008993" target="_blank">37008993</a><a href="/pmc/articles/PMC10064912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25022222">Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moorthie S,
|
||
Cameron L,
|
||
Sagoo GS,
|
||
Bonham JR,
|
||
Burton H</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2014 Nov;37(6):889-98.
|
||
Epub 2014 Jul 15
|
||
doi: 10.1007/s10545-014-9729-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25022222" target="_blank">25022222</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Maple%20syrup%20urine%20disease%20type%202%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1855371%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1855371%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C1855371%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C1855371%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1855371%5bDISCUI%5d" target="_blank">See all (14)</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=620699" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Maple%20syrup%20urine%20disease%20type%202" 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=(maple%20syrup%20urine%20disease%20type%202)%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></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=248610" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1629[geneid]" target="_blank">View DBT variations in ClinVar</a></li><li><a href="/nuccore/226693345" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=620699" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Maple+syrup+urine+disease+type+2/4457" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/maple_syrup_urine_disease_type_ii" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Maple%20syrup%20urine%20disease%20type%202" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/8596/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301495" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Maple%20syrup%20urine%20disease%20type%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Maple%20syrup%20urine%20disease%20type%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=343337" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=343337" ref="log$=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=C1855371[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1855371[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=343337" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=343337" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=343337" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=343337" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=343337" ref="log$=recordlinks">PubMed</a>
|
||
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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