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<meta name="keywords" content="C0024776, bckd - branched-chain 2-ketoacid dehydrogenase deficiency, bckd deficiency, bckdh deficiency, bckdha, bckdhb, branched chain alpha keto acid dehydrogenase deficiency, branched chain ketoacid dehydrogenase deficiency, branched chain ketoaciduria, branched-chain 2-ketoacid dehydrogenase deficiency, branched-chain alpha-keto acid dehydrogenase deficiency, branched-chain ketoaciduria, branched-chain ketoacidurias, dihydrolipoamide dehydrogenase deficiency, disease or syndrome, keto acid decarboxylase deficiency, ketoacid decarboxylase deficiency, ketoacidaemia, ketoacidemia, ketoaciduria, branched-chain, ketoacidurias, branched-chain, maple syrup urine disease, maple syrup urine disease, classic, maple syrup urine disease, intermediate, maple syrup urine disease, intermittent, maple syrup urine disease, thiamine-responsive, msud, msud (maple syrup urine disease), msud - maple syrup urine disease, oxo-acid decarboxylase 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 (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=6217
|
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ConceptID=C0024776
|
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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<span class="h1sub">(MSUD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6217</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.">C0024776</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>MSUD</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Branched chain ketoacid dehydrogenase deficiency (27718001); Oxo-acid decarboxylase deficiency (27718001); Ketoacidemia (27718001); Branched chain ketoaciduria (27718001); Maple syrup urine disease (27718001); Branched-chain alpha-keto acid dehydrogenase deficiency (27718001); Ketoacid decarboxylase deficiency (27718001); BCKD - branched-chain 2-ketoacid dehydrogenase deficiency (27718001); MSUD - maple syrup urine disease (27718001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<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="BCKDHA - ID: 593 - NCBI Gene" href="/gene/593" class="medgenPMinfo">BCKDHA</a> (19q13.2); <a target="_blank" title="BCKDHB - ID: 594 - NCBI Gene" href="/gene/594" class="medgenPMinfo">BCKDHB</a> (6q14.1)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related gene:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/1629">DBT</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009563" target="_blank">MONDO:0009563</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS248600" target="_blank">PS248600</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=511">ORPHA511</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_101">
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<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 />
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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>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<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 5 clinical subtypes of MSUD based on clinical presentation and biochemical response to thiamine administration: the classic neonatal severe form, an intermediate form, an intermittent form, a thiamine-responsive form, and an E3-deficient with lactic acidosis form (DLDD; 246900). All of these subtypes can be caused by mutation in the BCKDHA, BCKDHB, or DBT gene, except for the E3-deficient form, which is caused only by mutation in the DLD gene (Chuang and Shih, 2001).
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The classic form, which comprises 75% of MSUD patients, 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. The E3-deficient MSUD is caused by defects in the dehydrogenase (E3) component of the BCKAD complex that is common to the pyruvate and alpha-ketoglutarate dehydrogenase complexes. Patients with E3 deficiency have dysfunction of all 3 enzyme complexes, and patients usually die in infancy with severe lactic acidosis (summary by Chuang et al., 1995).
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Genetic Heterogeneity of Maple Syrup Urine Disease
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MSUD1B (620698) is caused by mutation in the BCKDHB gene (248611) on chromosome 6q14, and MSUD2 (620699) is caused by mutation in the DBT gene (248610) on chromosome 1p21.
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Mutation in the E3 component of the BCKDC complex, DLD (238331), on chromosome 7q31, causes an overlapping but more severe phenotype known as dihydrolipoamide dehydrogenase deficiency (DLDD; 246900). DLDD is sometimes referred to as MSUD3.
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See also a mild variant of MSUD (MSUDMV; 615135), caused by mutation in the regulatory gene PPM1K (611065). <a target="_blank" href="http://www.omim.org/entry/248600">http://www.omim.org/entry/248600</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><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.<br /><br />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. <a target="_blank" href="https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease">https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease</a></div></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><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="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="matched_ds"><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">Maple syrup urine disease</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="TLclosed"><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"><a href="/medgen/343337" ref="tree=GTR&ncbi_uid=343337&link_uid=343337" title="View MedGen record for 'Maple syrup urine disease type 2'">Maple syrup urine disease type 2</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=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="matched_ds">Maple syrup urine disease</span><ul><li><span class="TLline"><a href="/medgen/78689" ref="tree=MeSH" title="MedGen record for Classical maple syrup urine disease">Classical maple syrup urine disease</a></span></li><li><span class="TLline"><a href="/medgen/301223" ref="tree=MeSH" title="MedGen record for Intermediate maple syrup urine disease">Intermediate maple syrup urine disease</a></span></li><li><span class="TLline"><a href="/medgen/78690" ref="tree=MeSH" title="MedGen record for Intermittent maple syrup urine disease">Intermittent maple syrup urine disease</a></span></li><li><span class="TLline"><a href="/medgen/343337" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease type 2">Maple syrup urine disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/383668" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease type 1A">Maple syrup urine disease type 1A</a></span></li><li><span class="TLline"><a href="/medgen/443951" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease type 1B">Maple syrup urine disease type 1B</a></span></li><li><span class="TLline"><a href="/medgen/199627" ref="tree=MeSH" title="MedGen record for Thiamine-responsive maple syrup urine disease">Thiamine-responsive maple syrup urine disease</a></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=20171&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">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>
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<div class="nl"><a target="_blank" href="/pubmed/37340513">Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Deon M,
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Guerreiro G,
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Girardi J,
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Ribas G,
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Vargas CR</span><br />
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<span class="medgenPMjournal">Int J Dev Neurosci</span>
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2023 Oct;83(6):489-504.
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Epub 2023 Jun 20
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doi: 10.1002/jdn.10283.
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<span class="bold">PMID: </span><a href="/pubmed/37340513" target="_blank">37340513</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/31980395">Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strauss KA,
|
||
Carson VJ,
|
||
Soltys K,
|
||
Young ME,
|
||
Bowser LE,
|
||
Puffenberger EG,
|
||
Brigatti KW,
|
||
Williams KB,
|
||
Robinson DL,
|
||
Hendrickson C,
|
||
Beiler K,
|
||
Taylor CM,
|
||
Haas-Givler B,
|
||
Chopko S,
|
||
Hailey J,
|
||
Muelly ER,
|
||
Shellmer DA,
|
||
Radcliff Z,
|
||
Rodrigues A,
|
||
Loeven K,
|
||
Heaps AD,
|
||
Mazariegos GV,
|
||
Morton DH</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2020 Mar;129(3):193-206.
|
||
Epub 2020 Jan 16
|
||
doi: 10.1016/j.ymgme.2020.01.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31980395" target="_blank">31980395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29094226">Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wasim M,
|
||
Awan FR,
|
||
Khan HN,
|
||
Tawab A,
|
||
Iqbal M,
|
||
Ayesha H</span><br />
|
||
<span class="medgenPMjournal">Biochem Genet</span>
|
||
2018 Apr;56(1-2):7-21.
|
||
Epub 2017 Nov 1
|
||
doi: 10.1007/s10528-017-9825-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29094226" target="_blank">29094226</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22maple%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 (111)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Leucine.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Increased Leucine, Maple Syrup Urine Disease, 2021</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Leucine-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, Leucine Elevated, 2021</a></h3>
|
||
<h3 class="nl vspace"><a href="https://managementguidelines.net/guidelines.php/129/MSUD%20Nutrition%20Guidelines/Version%201.58" target="_blank">MSUD Nutrition Management Guidelines</a></h3>
|
||
<h3 class="nl vspace"><a href="http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Carrier-Screening-ACT-SheetAshkenazi-Jewish-Genetic-Disorders.aspx" target="_blank">American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38871294">Inborn errors of metabolism and pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murphey K,
|
||
Krishna I,
|
||
Li H</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol MFM</span>
|
||
2024 Aug;6(8):101399.
|
||
Epub 2024 Jun 12
|
||
doi: 10.1016/j.ajogmf.2024.101399.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38871294" target="_blank">38871294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37340513">Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deon M,
|
||
Guerreiro G,
|
||
Girardi J,
|
||
Ribas G,
|
||
Vargas CR</span><br />
|
||
<span class="medgenPMjournal">Int J Dev Neurosci</span>
|
||
2023 Oct;83(6):489-504.
|
||
Epub 2023 Jun 20
|
||
doi: 10.1002/jdn.10283.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37340513" target="_blank">37340513</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/31980395">Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strauss KA,
|
||
Carson VJ,
|
||
Soltys K,
|
||
Young ME,
|
||
Bowser LE,
|
||
Puffenberger EG,
|
||
Brigatti KW,
|
||
Williams KB,
|
||
Robinson DL,
|
||
Hendrickson C,
|
||
Beiler K,
|
||
Taylor CM,
|
||
Haas-Givler B,
|
||
Chopko S,
|
||
Hailey J,
|
||
Muelly ER,
|
||
Shellmer DA,
|
||
Radcliff Z,
|
||
Rodrigues A,
|
||
Loeven K,
|
||
Heaps AD,
|
||
Mazariegos GV,
|
||
Morton DH</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2020 Mar;129(3):193-206.
|
||
Epub 2020 Jan 16
|
||
doi: 10.1016/j.ymgme.2020.01.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31980395" target="_blank">31980395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29094226">Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wasim M,
|
||
Awan FR,
|
||
Khan HN,
|
||
Tawab A,
|
||
Iqbal M,
|
||
Ayesha H</span><br />
|
||
<span class="medgenPMjournal">Biochem Genet</span>
|
||
2018 Apr;56(1-2):7-21.
|
||
Epub 2017 Nov 1
|
||
doi: 10.1007/s10528-017-9825-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29094226" target="_blank">29094226</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Maple%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 (221)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37340513">Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deon M,
|
||
Guerreiro G,
|
||
Girardi J,
|
||
Ribas G,
|
||
Vargas CR</span><br />
|
||
<span class="medgenPMjournal">Int J Dev Neurosci</span>
|
||
2023 Oct;83(6):489-504.
|
||
Epub 2023 Jun 20
|
||
doi: 10.1002/jdn.10283.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37340513" target="_blank">37340513</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/17551951">Vomiting-again?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sethi R,
|
||
Barshop B,
|
||
Stucky ER</span><br />
|
||
<span class="medgenPMjournal">J Hosp Med</span>
|
||
2007 May;2(3):189-93.
|
||
doi: 10.1002/jhm.203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17551951" target="_blank">17551951</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3513103">Neonatal seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Painter MJ,
|
||
Bergman I,
|
||
Crumrine P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
1986 Feb;33(1):91-109.
|
||
doi: 10.1016/s0031-3955(16)34971-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3513103" target="_blank">3513103</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14281543">AMINOACIDURIA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">EFRON ML</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1965 May 20;272:1058-67 CONTD.
|
||
doi: 10.1056/NEJM196505202722006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14281543" target="_blank">14281543</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Maple%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 (467)</a></div><h3 class="subhead">Therapy</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/32244002">Current update in domino liver transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marques HP,
|
||
Barros I,
|
||
Li J,
|
||
Murad SD,
|
||
di Benedetto F</span><br />
|
||
<span class="medgenPMjournal">Int J Surg</span>
|
||
2020 Oct;82S:163-168.
|
||
Epub 2020 Mar 31
|
||
doi: 10.1016/j.ijsu.2020.03.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32244002" target="_blank">32244002</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3513103">Neonatal seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Painter MJ,
|
||
Bergman I,
|
||
Crumrine P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
1986 Feb;33(1):91-109.
|
||
doi: 10.1016/s0031-3955(16)34971-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3513103" target="_blank">3513103</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5582924">Maple syrup urine disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Voyce MA,
|
||
Montgomery JN,
|
||
Crome L,
|
||
Bowman J,
|
||
Ireland JT</span><br />
|
||
<span class="medgenPMjournal">J Ment Defic Res</span>
|
||
1967 Dec;11(4):231-8.
|
||
doi: 10.1111/j.1365-2788.1967.tb00224.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5582924" target="_blank">5582924</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4289134">Cystathioninuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaw KN,
|
||
Lieberman E,
|
||
Koch R,
|
||
Donnell GN</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1967 Jan;113(1):119-28.
|
||
doi: 10.1001/archpedi.1967.02090160169027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4289134" target="_blank">4289134</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Maple%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 (138)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37340513">Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deon M,
|
||
Guerreiro G,
|
||
Girardi J,
|
||
Ribas G,
|
||
Vargas CR</span><br />
|
||
<span class="medgenPMjournal">Int J Dev Neurosci</span>
|
||
2023 Oct;83(6):489-504.
|
||
Epub 2023 Jun 20
|
||
doi: 10.1002/jdn.10283.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37340513" target="_blank">37340513</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31980395">Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strauss KA,
|
||
Carson VJ,
|
||
Soltys K,
|
||
Young ME,
|
||
Bowser LE,
|
||
Puffenberger EG,
|
||
Brigatti KW,
|
||
Williams KB,
|
||
Robinson DL,
|
||
Hendrickson C,
|
||
Beiler K,
|
||
Taylor CM,
|
||
Haas-Givler B,
|
||
Chopko S,
|
||
Hailey J,
|
||
Muelly ER,
|
||
Shellmer DA,
|
||
Radcliff Z,
|
||
Rodrigues A,
|
||
Loeven K,
|
||
Heaps AD,
|
||
Mazariegos GV,
|
||
Morton DH</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2020 Mar;129(3):193-206.
|
||
Epub 2020 Jan 16
|
||
doi: 10.1016/j.ymgme.2020.01.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31980395" target="_blank">31980395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622331">Ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winchester S,
|
||
Singh PK,
|
||
Mikati MA</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;112:1213-7.
|
||
doi: 10.1016/B978-0-444-52910-7.00043-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622331" target="_blank">23622331</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12069539">Branched-chain organic acidurias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ogier de Baulny H,
|
||
Saudubray JM</span><br />
|
||
<span class="medgenPMjournal">Semin Neonatol</span>
|
||
2002 Feb;7(1):65-74.
|
||
doi: 10.1053/siny.2001.0087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12069539" target="_blank">12069539</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3513103">Neonatal seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Painter MJ,
|
||
Bergman I,
|
||
Crumrine P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
1986 Feb;33(1):91-109.
|
||
doi: 10.1016/s0031-3955(16)34971-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3513103" target="_blank">3513103</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Maple%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 (156)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31980395">Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strauss KA,
|
||
Carson VJ,
|
||
Soltys K,
|
||
Young ME,
|
||
Bowser LE,
|
||
Puffenberger EG,
|
||
Brigatti KW,
|
||
Williams KB,
|
||
Robinson DL,
|
||
Hendrickson C,
|
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Beiler K,
|
||
Taylor CM,
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Haas-Givler B,
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Chopko S,
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Hailey J,
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Muelly ER,
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Shellmer DA,
|
||
Radcliff Z,
|
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Rodrigues A,
|
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Loeven K,
|
||
Heaps AD,
|
||
Mazariegos GV,
|
||
Morton DH</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2020 Mar;129(3):193-206.
|
||
Epub 2020 Jan 16
|
||
doi: 10.1016/j.ymgme.2020.01.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31980395" target="_blank">31980395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24148561">L-carnitine supplementation as a potential antioxidant therapy for inherited neurometabolic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ribas GS,
|
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Vargas CR,
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Wajner M</span><br />
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<span class="medgenPMjournal">Gene</span>
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||
2014 Jan 10;533(2):469-76.
|
||
Epub 2013 Oct 19
|
||
doi: 10.1016/j.gene.2013.10.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24148561" target="_blank">24148561</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20852892">The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zlotogora J</span><br />
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||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2010 Nov;128(5):473-9.
|
||
Epub 2010 Sep 18
|
||
doi: 10.1007/s00439-010-0890-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20852892" target="_blank">20852892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3513103">Neonatal seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Painter MJ,
|
||
Bergman I,
|
||
Crumrine P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
1986 Feb;33(1):91-109.
|
||
doi: 10.1016/s0031-3955(16)34971-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3513103" target="_blank">3513103</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14063708">MAPLE SYRUP URINE DISEASE; FURTHER OBSERVATIONS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">WOODY NC,
|
||
HANCOCK CD Jr</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1963 Dec;106:578-85.
|
||
doi: 10.1001/archpedi.1963.02080050580008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14063708" target="_blank">14063708</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Maple%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 (201)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39431354">Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scharre S,
|
||
Mengler K,
|
||
Schnabel E,
|
||
Kuseyri Hübschmann O,
|
||
Tuncel AT,
|
||
Hoffmann GF,
|
||
Garbade SF,
|
||
Mütze U,
|
||
Kölker S</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2025 Jan;27(1):101303.
|
||
Epub 2024 Oct 18
|
||
doi: 10.1016/j.gim.2024.101303.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39431354" target="_blank">39431354</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/25344299">Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeltner NA,
|
||
Huemer M,
|
||
Baumgartner MR,
|
||
Landolt MA</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2014 Oct 25;9:159.
|
||
doi: 10.1186/s13023-014-0159-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25344299" target="_blank">25344299</a><a href="/pmc/articles/PMC4219016" 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%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0024776%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0024776%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (61)</a></li>
|
||
<li><a href="/gtr/tests?term=C0024776%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0024776%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0024776%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0024776%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0024776%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (86)</a></li>
|
||
<li><a href="/gtr/tests?term=C0024776%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (21)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0024776%5bDISCUI%5d" target="_blank">See all (109)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<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/phenotypicSeries/PS248600" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=511" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Maple%20syrup%20urine%20disease" 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=(%22maple%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Maple%20syrup%20urine%20disease%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Leucine.pdf">ACMG ACT, 2021</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Increased Leucine, Maple Syrup Urine Disease, 2021</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Leucine-Algorithm.pdf">ACMG Algorithm, 2021</a><div>American College of Medical Genetics and Genomics, Algorithm, Leucine Elevated, 2021</div></li><li><a target="_blank" href="https://managementguidelines.net/guidelines.php/129/MSUD%20Nutrition%20Guidelines/Version%201.58">GMDI/SERN, 2021</a><div>MSUD Nutrition Management Guidelines</div></li><li><a target="_blank" href="http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Carrier-Screening-ACT-SheetAshkenazi-Jewish-Genetic-Disorders.aspx">ACMG ACT, 2011</a><div>American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders</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=248611%20608348" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=593[geneid]" target="_blank">View BCKDHA variations in ClinVar</a></li><li><a href="/clinvar/?term=594[geneid]" target="_blank">View BCKDHB variations in ClinVar</a></li><li><a href="/nuccore/223671913,260593636" target="_blank">RefSeqGene</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
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<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/4453" target="_blank">Genetic Alliance</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Maple%20syrup%20urine%20disease" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/3228/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
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|
||
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<h3>Reviews</h3>
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<div class="portlet_content">
|
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<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>
|
||
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|
||
<a href="/pubmed/clinical?term=Maple%20syrup%20urine%20disease" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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|
||
<a href="/pubmed?term=Maple%20syrup%20urine%20disease%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
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