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<meta name="keywords" content="C0268568, classic bckd deficiency, classic branched-chain 2-ketoacid dehydrogenase deficiency, classic branched-chain alpha-ketoacid dehydrogenase deficiency, classic branched-chain ketoaciduria, classic maple syrup urine disease, classic msud, classical maple syrup urine disease, disease or syndrome, maple syrup urine disease, classic, maple syrup urine disease, classical, severe branched chain ketoacid dehydrogenase deficiency, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Maple syrup urine disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still lead to delayed development and other health problems if not treated.\n\nMaple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=78689
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ConceptID=C0268568
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Classical maple syrup urine disease</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78689</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.">C0268568</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>Classic Maple Syrup Urine Disease; Classical Maple Syrup Urine Disease; Maple Syrup Urine Disease, Classic; Maple Syrup Urine Disease, Classical</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Severe branched chain ketoacid dehydrogenase deficiency (54064006); Classical maple syrup urine disease (54064006)</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>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0017051" target="_blank">MONDO:0017051</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=268145">ORPHA268145</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Maple syrup urine disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still lead to delayed development and other health problems if not treated.<br /><br />Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet 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">Classical maple syrup urine disease</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/156005" ref="tree=MeSH" title="MedGen record for Brain Diseases, Metabolic, Inborn">Brain Diseases, Metabolic, Inborn</a></span><ul><li><span class="TLline"><a href="/medgen/6217" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease">Maple syrup urine disease</a></span><ul><li><span class="matched_ds">Classical maple syrup urine disease</span></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=20168&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Classical maple syrup urine disease</span> in Orphanet.</div></div></div>
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</div>
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||
<div class="portlet mgSection" id="ID_105">
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<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>
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||
<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/6798541">Outcome of early and long-term management of classical maple syrup urine disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clow CL,
|
||
Reade TM,
|
||
Scriver CR</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
1981 Dec;68(6):856-62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6798541" target="_blank">6798541</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22classical%20maple%20syrup%20urine%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></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/24979318">Liver transplantation for classical maple syrup urine disease: long-term follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Díaz VM,
|
||
Camarena C,
|
||
de la Vega Á,
|
||
Martínez-Pardo M,
|
||
Díaz C,
|
||
López M,
|
||
Hernández F,
|
||
Andrés A,
|
||
Jara P</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2014 Nov;59(5):636-9.
|
||
doi: 10.1097/MPG.0000000000000469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24979318" target="_blank">24979318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21839471">Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazariegos GV,
|
||
Morton DH,
|
||
Sindhi R,
|
||
Soltys K,
|
||
Nayyar N,
|
||
Bond G,
|
||
Shellmer D,
|
||
Shneider B,
|
||
Vockley J,
|
||
Strauss KA</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2012 Jan;160(1):116-21.e1.
|
||
Epub 2011 Aug 11
|
||
doi: 10.1016/j.jpeds.2011.06.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21839471" target="_blank">21839471</a><a href="/pmc/articles/PMC3671923" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20061171">Classical maple syrup urine disease and brain development: principles of management and formula design.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strauss KA,
|
||
Wardley B,
|
||
Robinson D,
|
||
Hendrickson C,
|
||
Rider NL,
|
||
Puffenberger EG,
|
||
Shellmer D,
|
||
Moser AB,
|
||
Morton DH</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2010 Apr;99(4):333-45.
|
||
Epub 2010 Jan 12
|
||
doi: 10.1016/j.ymgme.2009.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20061171" target="_blank">20061171</a><a href="/pmc/articles/PMC3671925" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16601890">The longest-surviving patient with classical maple syrup urine disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">le Roux C,
|
||
Murphy E,
|
||
Lilburn M,
|
||
Lee PJ</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2006 Feb;29(1):190-4.
|
||
doi: 10.1007/s10545-006-0204-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16601890" target="_blank">16601890</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6798541">Outcome of early and long-term management of classical maple syrup urine disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clow CL,
|
||
Reade TM,
|
||
Scriver CR</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
1981 Dec;68(6):856-62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6798541" target="_blank">6798541</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Classical%20maple%20syrup%20urine%20disease%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 (7)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29673582">In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernández-Lainez C,
|
||
Aláez-Verson C,
|
||
Ibarra-González I,
|
||
Enríquez-Flores S,
|
||
Carrillo-Sanchez K,
|
||
Flores-Lagunes L,
|
||
Guillén-López S,
|
||
Belmont-Martínez L,
|
||
Vela-Amieva M</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2018 Aug;483:33-38.
|
||
Epub 2018 Apr 16
|
||
doi: 10.1016/j.cca.2018.04.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29673582" target="_blank">29673582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21803516">Disorders of amino acid metabolism associated with epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee WT</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2011 Oct;33(9):745-52.
|
||
Epub 2011 Jul 30
|
||
doi: 10.1016/j.braindev.2011.06.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21803516" target="_blank">21803516</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2124065">Maple syrup urine disease: findings on CT and MR scans of the brain in 10 infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brismar J,
|
||
Aqeel A,
|
||
Brismar G,
|
||
Coates R,
|
||
Gascon G,
|
||
Ozand P</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
1990 Nov-Dec;11(6):1219-28.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2124065" target="_blank">2124065</a><a href="/pmc/articles/PMC8332126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7181520">Outcome of maple syrup urine disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naughten ER,
|
||
Jenkins J,
|
||
Francis DE,
|
||
Leonard JV</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1982 Dec;57(12):918-21.
|
||
doi: 10.1136/adc.57.12.918.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7181520" target="_blank">7181520</a><a href="/pmc/articles/PMC1628082" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5066975">A case of classical maple syrup urine disease "thiamine non-responsive".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong PW,
|
||
Justice P,
|
||
Smith GF,
|
||
Hsia DY</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1972;3(1):27-33.
|
||
doi: 10.1111/j.1399-0004.1972.tb01722.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5066975" target="_blank">5066975</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Classical%20maple%20syrup%20urine%20disease%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 (8)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28629683">The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Evans M,
|
||
Truby H,
|
||
Boneh A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2017 Sep;188:163-172.
|
||
Epub 2017 Jun 17
|
||
doi: 10.1016/j.jpeds.2017.05.048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28629683" target="_blank">28629683</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20061171">Classical maple syrup urine disease and brain development: principles of management and formula design.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strauss KA,
|
||
Wardley B,
|
||
Robinson D,
|
||
Hendrickson C,
|
||
Rider NL,
|
||
Puffenberger EG,
|
||
Shellmer D,
|
||
Moser AB,
|
||
Morton DH</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2010 Apr;99(4):333-45.
|
||
Epub 2010 Jan 12
|
||
doi: 10.1016/j.ymgme.2009.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20061171" target="_blank">20061171</a><a href="/pmc/articles/PMC3671925" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1583867">Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Treacy E,
|
||
Clow CL,
|
||
Reade TR,
|
||
Chitayat D,
|
||
Mamer OA,
|
||
Scriver CR</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1992;15(1):121-35.
|
||
doi: 10.1007/BF01800354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1583867" target="_blank">1583867</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6798541">Outcome of early and long-term management of classical maple syrup urine disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clow CL,
|
||
Reade TM,
|
||
Scriver CR</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
1981 Dec;68(6):856-62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6798541" target="_blank">6798541</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5066975">A case of classical maple syrup urine disease "thiamine non-responsive".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong PW,
|
||
Justice P,
|
||
Smith GF,
|
||
Hsia DY</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1972;3(1):27-33.
|
||
doi: 10.1111/j.1399-0004.1972.tb01722.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5066975" target="_blank">5066975</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Classical%20maple%20syrup%20urine%20disease%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25708273">Living donor liver transplantation from a heterozygous parent for classical maple syrup urine disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kadohisa M,
|
||
Matsumoto S,
|
||
Sawada H,
|
||
Honda M,
|
||
Murokawa T,
|
||
Hayashida S,
|
||
Ohya Y,
|
||
Lee KJ,
|
||
Yamamoto H,
|
||
Mitsubuchi H,
|
||
Endo F,
|
||
Inomata Y</span><br />
|
||
<span class="medgenPMjournal">Pediatr Transplant</span>
|
||
2015 May;19(3):E66-9.
|
||
Epub 2015 Feb 23
|
||
doi: 10.1111/petr.12447.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25708273" target="_blank">25708273</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24979318">Liver transplantation for classical maple syrup urine disease: long-term follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Díaz VM,
|
||
Camarena C,
|
||
de la Vega Á,
|
||
Martínez-Pardo M,
|
||
Díaz C,
|
||
López M,
|
||
Hernández F,
|
||
Andrés A,
|
||
Jara P</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2014 Nov;59(5):636-9.
|
||
doi: 10.1097/MPG.0000000000000469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24979318" target="_blank">24979318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21803516">Disorders of amino acid metabolism associated with epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee WT</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2011 Oct;33(9):745-52.
|
||
Epub 2011 Jul 30
|
||
doi: 10.1016/j.braindev.2011.06.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21803516" target="_blank">21803516</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2124065">Maple syrup urine disease: findings on CT and MR scans of the brain in 10 infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brismar J,
|
||
Aqeel A,
|
||
Brismar G,
|
||
Coates R,
|
||
Gascon G,
|
||
Ozand P</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
1990 Nov-Dec;11(6):1219-28.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2124065" target="_blank">2124065</a><a href="/pmc/articles/PMC8332126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7181520">Outcome of maple syrup urine disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naughten ER,
|
||
Jenkins J,
|
||
Francis DE,
|
||
Leonard JV</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1982 Dec;57(12):918-21.
|
||
doi: 10.1136/adc.57.12.918.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7181520" target="_blank">7181520</a><a href="/pmc/articles/PMC1628082" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Classical%20maple%20syrup%20urine%20disease%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 (10)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29673582">In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernández-Lainez C,
|
||
Aláez-Verson C,
|
||
Ibarra-González I,
|
||
Enríquez-Flores S,
|
||
Carrillo-Sanchez K,
|
||
Flores-Lagunes L,
|
||
Guillén-López S,
|
||
Belmont-Martínez L,
|
||
Vela-Amieva M</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2018 Aug;483:33-38.
|
||
Epub 2018 Apr 16
|
||
doi: 10.1016/j.cca.2018.04.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29673582" target="_blank">29673582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28629683">The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Evans M,
|
||
Truby H,
|
||
Boneh A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2017 Sep;188:163-172.
|
||
Epub 2017 Jun 17
|
||
doi: 10.1016/j.jpeds.2017.05.048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28629683" target="_blank">28629683</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7744549">Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Korein J,
|
||
Sansaricq C,
|
||
Kalmijn M,
|
||
Honig J,
|
||
Lange B</span><br />
|
||
<span class="medgenPMjournal">Int J Neurosci</span>
|
||
1994 Nov;79(1-2):21-45.
|
||
doi: 10.3109/00207459408986065.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7744549" target="_blank">7744549</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7064884">Decreased essential amino acid requirements without catabolism in phenylketonuria and maple syrup urine disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruch T,
|
||
Kerr D</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Nutr</span>
|
||
1982 Feb;35(2):217-28.
|
||
doi: 10.1093/ajcn/35.2.217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7064884" target="_blank">7064884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6798541">Outcome of early and long-term management of classical maple syrup urine disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clow CL,
|
||
Reade TM,
|
||
Scriver CR</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
1981 Dec;68(6):856-62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6798541" target="_blank">6798541</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Classical%20maple%20syrup%20urine%20disease%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 (5)</a></div></div>
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