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|
||
<!--
|
||
UID=468982
|
||
ConceptID=C1263739
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Disorder of organic acid metabolism</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>468982</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.">C1263739</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>Organic acidemia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Disorder of organic acid metabolism (116021002); Organic acid metabolism disorder (116021002)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/326625">MMAB</a>, <a target="_blank" href="/gene/166785">MMAA</a>, <a target="_blank" href="/gene/84693">MCEE</a>, <a target="_blank" href="/gene/64087">MCCC2</a>, <a target="_blank" href="/gene/56922">MCCC1</a>, <a target="_blank" href="/gene/27249">MMADHC</a>, <a target="_blank" href="/gene/25974">MMACHC</a>, <a target="_blank" href="/gene/5096">PCCB</a>, <a target="_blank" href="/gene/5095">PCCA</a>, <a target="_blank" href="/gene/5052">PRDX1</a>, <a target="_blank" href="/gene/4594">MMUT</a>, <a target="_blank" href="/gene/3712">IVD</a>, <a target="_blank" href="/gene/3155">HMGCL</a>, <a target="_blank" href="/gene/2639">GCDH</a>, <a target="_blank" href="/gene/1629">DBT</a>, <a target="_blank" href="/gene/594">BCKDHB</a>, <a target="_blank" href="/gene/593">BCKDHA</a>, <a target="_blank" href="/gene/38">ACAT1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0045022" target="_blank">MONDO:0045022</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">
|
||
<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">An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1263739[DISCUI]&test_type=Clinical" ref="ncbi_uid=468982">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">Disorder of organic acid metabolism</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848561[DISCUI]&test_type=Clinical" ref="ncbi_uid=341256">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341256" target="_blank" href="/omim/277400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1328/" ref="ncbi_uid=341256">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341256" ref="ncbi_uid=341256">V</a></span></span><span class="TLline"><a href="/medgen/341256" ref="tree=GTR&ncbi_uid=341256&link_uid=341256" title="View MedGen record for 'Cobalamin C disease'">Cobalamin C 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=C1536500[DISCUI]&test_type=Clinical" ref="ncbi_uid=280689">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=280689" target="_blank" href="/omim/203750">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=280689" ref="ncbi_uid=280689">V</a></span></span><span class="TLline"><a href="/medgen/280689" ref="tree=GTR&ncbi_uid=280689&link_uid=280689" title="View MedGen record for 'Deficiency of acetyl-CoA acetyltransferase'">Deficiency of acetyl-CoA acetyltransferase</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=C0268601[DISCUI]&test_type=Clinical" ref="ncbi_uid=78692">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78692" target="_blank" href="/omim/246450">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=78692" ref="ncbi_uid=78692">V</a></span></span><span class="TLline"><a href="/medgen/78692" ref="tree=GTR&ncbi_uid=78692&link_uid=78692" title="View MedGen record for 'Deficiency of hydroxymethylglutaryl-CoA lyase'">Deficiency of hydroxymethylglutaryl-CoA lyase</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=C0268595[DISCUI]&test_type=Clinical" ref="ncbi_uid=124337">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=124337" target="_blank" href="/omim/231670">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK546575/" ref="ncbi_uid=124337">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=124337" ref="ncbi_uid=124337">V</a></span></span><span class="TLline"><a href="/medgen/124337" ref="tree=GTR&ncbi_uid=124337&link_uid=124337" title="View MedGen record for 'Glutaric aciduria, type 1'">Glutaric aciduria, type 1</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=C0268575[DISCUI]&test_type=Clinical" ref="ncbi_uid=82822">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82822" target="_blank" href="/omim/243500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK601614/" ref="ncbi_uid=82822">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82822" ref="ncbi_uid=82822">V</a></span></span><span class="TLline"><a href="/medgen/82822" ref="tree=GTR&ncbi_uid=82822&link_uid=82822" title="View MedGen record for 'Isovaleryl-CoA dehydrogenase deficiency'">Isovaleryl-CoA dehydrogenase 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=C0024776[DISCUI]&test_type=Clinical" ref="ncbi_uid=6217">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1319/" ref="ncbi_uid=6217">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6217" ref="ncbi_uid=6217">V</a></span></span><span class="TLline"><a href="/medgen/6217" ref="tree=GTR&ncbi_uid=6217&link_uid=6217" title="View MedGen record for 'Maple syrup urine disease'">Maple syrup urine disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/78690" ref="tree=GTR&ncbi_uid=78690&link_uid=78690" title="View MedGen record for 'Intermittent maple syrup urine disease'">Intermittent maple syrup urine disease</a></span></li><li class="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=C4551505[DISCUI]&test_type=Clinical" ref="ncbi_uid=1633312">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=1633312" ref="ncbi_uid=1633312">V</a></span></span><span class="TLline"><a href="/medgen/1633312" ref="tree=GTR&ncbi_uid=1633312&link_uid=1633312" title="View MedGen record for 'Methylcrotonyl-CoA carboxylase deficiency'">Methylcrotonyl-CoA carboxylase deficiency</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=C0268600[DISCUI]&test_type=Clinical" ref="ncbi_uid=78691">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78691" target="_blank" href="/omim/210200">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=78691" ref="ncbi_uid=78691">V</a></span></span><span class="TLline"><a href="/medgen/78691" ref="tree=GTR&ncbi_uid=78691&link_uid=78691" title="View MedGen record for '3-methylcrotonyl-CoA carboxylase 1 deficiency'">3-methylcrotonyl-CoA carboxylase 1 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=C1859499[DISCUI]&test_type=Clinical" ref="ncbi_uid=347898">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347898" target="_blank" href="/omim/210210">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=347898" ref="ncbi_uid=347898">V</a></span></span><span class="TLline"><a href="/medgen/347898" ref="tree=GTR&ncbi_uid=347898&link_uid=347898" title="View MedGen record for '3-methylcrotonyl-CoA carboxylase 2 deficiency'">3-methylcrotonyl-CoA carboxylase 2 deficiency</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=C0268583[DISCUI]&test_type=Clinical" ref="ncbi_uid=120654">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/NBK1231/" ref="ncbi_uid=120654">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=120654" ref="ncbi_uid=120654">V</a></span></span><span class="TLline"><a href="/medgen/120654" ref="tree=GTR&ncbi_uid=120654&link_uid=120654" title="View MedGen record for 'Methylmalonic acidemia'">Methylmalonic acidemia</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=C1855100[DISCUI]&test_type=Clinical" ref="ncbi_uid=344419">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344419" target="_blank" href="/omim/251120">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1231/" ref="ncbi_uid=344419">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344419" ref="ncbi_uid=344419">V</a></span></span><span class="TLline"><a href="/medgen/344419" ref="tree=GTR&ncbi_uid=344419&link_uid=344419" title="View MedGen record for 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency'">Methylmalonic acidemia due to methylmalonyl-CoA epimerase 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=C1848552[DISCUI]&test_type=Clinical" ref="ncbi_uid=341253">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341253" target="_blank" href="/omim/277410">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1231%20OR%20NBK1328)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=341253">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341253" ref="ncbi_uid=341253">V</a></span></span><span class="TLline"><a href="/medgen/341253" ref="tree=GTR&ncbi_uid=341253&link_uid=341253" title="View MedGen record for 'Methylmalonic aciduria and homocystinuria type cblD'">Methylmalonic aciduria and homocystinuria type cblD</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=C1855114[DISCUI]&test_type=Clinical" ref="ncbi_uid=344424">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344424" target="_blank" href="/omim/251000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1231/" ref="ncbi_uid=344424">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344424" ref="ncbi_uid=344424">V</a></span></span><span class="TLline"><a href="/medgen/344424" ref="tree=GTR&ncbi_uid=344424&link_uid=344424" title="View MedGen record for 'Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency'">Methylmalonic aciduria due to methylmalonyl-CoA mutase 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=C1855109[DISCUI]&test_type=Clinical" ref="ncbi_uid=344422">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344422" target="_blank" href="/omim/251100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1231/" ref="ncbi_uid=344422">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344422" ref="ncbi_uid=344422">V</a></span></span><span class="TLline"><a href="/medgen/344422" ref="tree=GTR&ncbi_uid=344422&link_uid=344422" title="View MedGen record for 'Methylmalonic aciduria, cblA type'">Methylmalonic aciduria, cblA type</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=C1855102[DISCUI]&test_type=Clinical" ref="ncbi_uid=344420">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344420" target="_blank" href="/omim/251110">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1231/" ref="ncbi_uid=344420">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344420" ref="ncbi_uid=344420">V</a></span></span><span class="TLline"><a href="/medgen/344420" ref="tree=GTR&ncbi_uid=344420&link_uid=344420" title="View MedGen record for 'Methylmalonic aciduria, cblB type'">Methylmalonic aciduria, cblB type</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=C0268579[DISCUI]&test_type=Clinical" ref="ncbi_uid=75694">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75694" target="_blank" href="/omim/232000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK92946/" ref="ncbi_uid=75694">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75694" ref="ncbi_uid=75694">V</a></span></span><span class="TLline"><a href="/medgen/75694" ref="tree=GTR&ncbi_uid=75694&link_uid=75694" title="View MedGen record for 'Propionic acidemia'">Propionic acidemia</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="matched_ds">Disorder of organic acid metabolism</span><ul><li><span class="TLline"><a href="/medgen/777186" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria">3-Methylglutaconic aciduria</a></span><ul><li><span class="TLline"><a href="/medgen/90994" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria type 1">3-methylglutaconic aciduria type 1</a></span></li><li><span class="TLline"><a href="/medgen/107893" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria type 2">3-Methylglutaconic aciduria type 2</a></span></li><li><span class="TLline"><a href="/medgen/108273" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria type 3">3-Methylglutaconic aciduria type 3</a></span></li><li><span class="TLline"><a href="/medgen/344425" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria type 4">3-methylglutaconic aciduria type 4</a></span></li><li><span class="TLline"><a href="/medgen/347542" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria type 5">3-methylglutaconic aciduria type 5</a></span></li><li><span class="TLline"><a href="/medgen/934617" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria type 8">3-methylglutaconic aciduria type 8</a></span></li><li><span class="TLline"><a href="/medgen/1622927" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria type 9">3-methylglutaconic aciduria type 9</a></span></li><li><span class="TLline"><a href="/medgen/873604" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome">3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1810214" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria, type VIIB">3-methylglutaconic aciduria, type VIIB</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/341256" ref="tree=MeSH" title="MedGen record for Cobalamin C disease">Cobalamin C disease</a></span></li><li><span class="TLline"><a href="/medgen/280689" ref="tree=MeSH" title="MedGen record for Deficiency of acetyl-CoA acetyltransferase">Deficiency of acetyl-CoA acetyltransferase</a></span></li><li><span class="TLline"><a href="/medgen/78692" ref="tree=MeSH" title="MedGen record for Deficiency of hydroxymethylglutaryl-CoA lyase">Deficiency of hydroxymethylglutaryl-CoA lyase</a></span></li><li><span class="TLline"><a href="/medgen/124337" ref="tree=MeSH" title="MedGen record for Glutaric aciduria, type 1">Glutaric aciduria, type 1</a></span></li><li><span class="TLline"><a href="/medgen/82822" ref="tree=MeSH" title="MedGen record for Isovaleryl-CoA dehydrogenase deficiency">Isovaleryl-CoA dehydrogenase deficiency</a></span></li><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="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><li><span class="TLline"><a href="/medgen/1633312" ref="tree=MeSH" title="MedGen record for Methylcrotonyl-CoA carboxylase deficiency">Methylcrotonyl-CoA carboxylase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/78691" ref="tree=MeSH" title="MedGen record for 3-methylcrotonyl-CoA carboxylase 1 deficiency">3-methylcrotonyl-CoA carboxylase 1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/347898" ref="tree=MeSH" title="MedGen record for 3-methylcrotonyl-CoA carboxylase 2 deficiency">3-methylcrotonyl-CoA carboxylase 2 deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120654" ref="tree=MeSH" title="MedGen record for Methylmalonic acidemia">Methylmalonic acidemia</a></span><ul><li><span class="TLline"><a href="/medgen/344419" ref="tree=MeSH" title="MedGen record for Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency">Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/341253" ref="tree=MeSH" title="MedGen record for Methylmalonic aciduria and homocystinuria type cblD">Methylmalonic aciduria and homocystinuria type cblD</a></span></li><li><span class="TLline"><a href="/medgen/344424" ref="tree=MeSH" title="MedGen record for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency">Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/575192" ref="tree=MeSH" title="MedGen record for Vitamin B12-unresponsive methylmalonic acidemia type mut-">Vitamin B12-unresponsive methylmalonic acidemia type mut-</a></span></li><li><span class="TLline"><a href="/medgen/575191" ref="tree=MeSH" title="MedGen record for Vitamin B12-unresponsive methylmalonic acidemia type mut0">Vitamin B12-unresponsive methylmalonic acidemia type mut0</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/344422" ref="tree=MeSH" title="MedGen record for Methylmalonic aciduria, cblA type">Methylmalonic aciduria, cblA type</a></span></li><li><span class="TLline"><a href="/medgen/344420" ref="tree=MeSH" title="MedGen record for Methylmalonic aciduria, cblB type">Methylmalonic aciduria, cblB type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75694" ref="tree=MeSH" title="MedGen record for Propionic acidemia">Propionic acidemia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></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/34704419">Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tang C,
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Tan M,
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Xie T,
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Tang F,
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Liu S,
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Wei Q,
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Liu J,
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Huang Y</span><br />
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<span class="medgenPMjournal">Zhejiang Da Xue Xue Bao Yi Xue Ban</span>
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2021 Aug 25;50(4):463-471.
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doi: 10.3724/zdxbyxb-2021-0260.
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<span class="bold">PMID: </span><a href="/pubmed/34704419" target="_blank">34704419</a><a href="/pmc/articles/PMC8714483" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22disorder%20of%20organic%20acid%20metabolism%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/35348993">Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waisbren SE</span><br />
|
||
<span class="medgenPMjournal">Metab Brain Dis</span>
|
||
2022 Jun;37(5):1317-1335.
|
||
Epub 2022 Mar 29
|
||
doi: 10.1007/s11011-022-00954-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35348993" target="_blank">35348993</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34704419">Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang C,
|
||
Tan M,
|
||
Xie T,
|
||
Tang F,
|
||
Liu S,
|
||
Wei Q,
|
||
Liu J,
|
||
Huang Y</span><br />
|
||
<span class="medgenPMjournal">Zhejiang Da Xue Xue Bao Yi Xue Ban</span>
|
||
2021 Aug 25;50(4):463-471.
|
||
doi: 10.3724/zdxbyxb-2021-0260.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34704419" target="_blank">34704419</a><a href="/pmc/articles/PMC8714483" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24568291">Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong ES,
|
||
McIntyre C,
|
||
Peters HL,
|
||
Ranieri E,
|
||
Anson DS,
|
||
Fletcher JM</span><br />
|
||
<span class="medgenPMjournal">Hum Gene Ther</span>
|
||
2014 Jun;25(6):529-38.
|
||
Epub 2014 Apr 2
|
||
doi: 10.1089/hum.2013.111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24568291" target="_blank">24568291</a><a href="/pmc/articles/PMC4064729" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14716240">Glutaric aciduria type I: value of diffusion-weighted magnetic resonance imaging for diagnosing acute striatal necrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elster AW</span><br />
|
||
<span class="medgenPMjournal">J Comput Assist Tomogr</span>
|
||
2004 Jan-Feb;28(1):98-100.
|
||
doi: 10.1097/00004728-200401000-00016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14716240" target="_blank">14716240</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2154743">An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tahara T,
|
||
Kraus JP,
|
||
Rosenberg LE</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
1990 Feb;87(4):1372-6.
|
||
doi: 10.1073/pnas.87.4.1372.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2154743" target="_blank">2154743</a><a href="/pmc/articles/PMC53477" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disorder%20of%20organic%20acid%20metabolism%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35348993">Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waisbren SE</span><br />
|
||
<span class="medgenPMjournal">Metab Brain Dis</span>
|
||
2022 Jun;37(5):1317-1335.
|
||
Epub 2022 Mar 29
|
||
doi: 10.1007/s11011-022-00954-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35348993" target="_blank">35348993</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34704419">Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang C,
|
||
Tan M,
|
||
Xie T,
|
||
Tang F,
|
||
Liu S,
|
||
Wei Q,
|
||
Liu J,
|
||
Huang Y</span><br />
|
||
<span class="medgenPMjournal">Zhejiang Da Xue Xue Bao Yi Xue Ban</span>
|
||
2021 Aug 25;50(4):463-471.
|
||
doi: 10.3724/zdxbyxb-2021-0260.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34704419" target="_blank">34704419</a><a href="/pmc/articles/PMC8714483" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23784758">Contribution of brain MRI in a patient diagnosed with 2-hydroxyglutaric aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Işikay S,
|
||
Carman KB</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2013 Jun 19;2013
|
||
doi: 10.1136/bcr-2013-008917.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23784758" target="_blank">23784758</a><a href="/pmc/articles/PMC3702836" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23749865">L-2 hydroxyglutaric aciduria presenting with status epilepticus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Işikay S</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2013 Jun 7;2013
|
||
doi: 10.1136/bcr-2013-010164.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23749865" target="_blank">23749865</a><a href="/pmc/articles/PMC3702940" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23749824">L-2 hydroxyglutaric aciduria presenting with anxiety symptoms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gökçen C,
|
||
Isikay S,
|
||
Yilmaz K</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2013 Jun 6;2013
|
||
doi: 10.1136/bcr-2013-009512.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23749824" target="_blank">23749824</a><a href="/pmc/articles/PMC3702901" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disorder%20of%20organic%20acid%20metabolism%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 (10)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35348993">Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waisbren SE</span><br />
|
||
<span class="medgenPMjournal">Metab Brain Dis</span>
|
||
2022 Jun;37(5):1317-1335.
|
||
Epub 2022 Mar 29
|
||
doi: 10.1007/s11011-022-00954-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35348993" target="_blank">35348993</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23749865">L-2 hydroxyglutaric aciduria presenting with status epilepticus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Işikay S</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2013 Jun 7;2013
|
||
doi: 10.1136/bcr-2013-010164.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23749865" target="_blank">23749865</a><a href="/pmc/articles/PMC3702940" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23749824">L-2 hydroxyglutaric aciduria presenting with anxiety symptoms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gökçen C,
|
||
Isikay S,
|
||
Yilmaz K</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2013 Jun 6;2013
|
||
doi: 10.1136/bcr-2013-009512.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23749824" target="_blank">23749824</a><a href="/pmc/articles/PMC3702901" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22353300">Eyelid myoclonia with absence seizures in a child with l-2 hydroxyglutaric aciduria: findings of magnetic resonance imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mete A,
|
||
Isikay S,
|
||
Sirikci A,
|
||
Ozkur A,
|
||
Bayram M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2012 Mar;46(3):195-7.
|
||
doi: 10.1016/j.pediatrneurol.2012.01.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22353300" target="_blank">22353300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6798072">Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burri BJ,
|
||
Sweetman L,
|
||
Nyhan WL</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
1981 Dec;68(6):1491-5.
|
||
doi: 10.1172/jci110402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6798072" target="_blank">6798072</a><a href="/pmc/articles/PMC370952" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disorder%20of%20organic%20acid%20metabolism%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34704419">Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang C,
|
||
Tan M,
|
||
Xie T,
|
||
Tang F,
|
||
Liu S,
|
||
Wei Q,
|
||
Liu J,
|
||
Huang Y</span><br />
|
||
<span class="medgenPMjournal">Zhejiang Da Xue Xue Bao Yi Xue Ban</span>
|
||
2021 Aug 25;50(4):463-471.
|
||
doi: 10.3724/zdxbyxb-2021-0260.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34704419" target="_blank">34704419</a><a href="/pmc/articles/PMC8714483" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23749865">L-2 hydroxyglutaric aciduria presenting with status epilepticus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Işikay S</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2013 Jun 7;2013
|
||
doi: 10.1136/bcr-2013-010164.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23749865" target="_blank">23749865</a><a href="/pmc/articles/PMC3702940" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12458812">Neonatal onset propionic acidemia without acidosis: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akman I,
|
||
Imamoğlu S,
|
||
Demirkol M,
|
||
Alpay H,
|
||
Ozek E</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2002 Oct-Dec;44(4):339-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12458812" target="_blank">12458812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2154743">An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tahara T,
|
||
Kraus JP,
|
||
Rosenberg LE</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
1990 Feb;87(4):1372-6.
|
||
doi: 10.1073/pnas.87.4.1372.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2154743" target="_blank">2154743</a><a href="/pmc/articles/PMC53477" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1978672">Primary structure and activity of mouse methylmalonyl-CoA mutase.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilkemeyer MF,
|
||
Crane AM,
|
||
Ledley FD</span><br />
|
||
<span class="medgenPMjournal">Biochem J</span>
|
||
1990 Oct 15;271(2):449-55.
|
||
doi: 10.1042/bj2710449.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1978672" target="_blank">1978672</a><a href="/pmc/articles/PMC1149575" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disorder%20of%20organic%20acid%20metabolism%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35348993">Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waisbren SE</span><br />
|
||
<span class="medgenPMjournal">Metab Brain Dis</span>
|
||
2022 Jun;37(5):1317-1335.
|
||
Epub 2022 Mar 29
|
||
doi: 10.1007/s11011-022-00954-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35348993" target="_blank">35348993</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34704419">Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang C,
|
||
Tan M,
|
||
Xie T,
|
||
Tang F,
|
||
Liu S,
|
||
Wei Q,
|
||
Liu J,
|
||
Huang Y</span><br />
|
||
<span class="medgenPMjournal">Zhejiang Da Xue Xue Bao Yi Xue Ban</span>
|
||
2021 Aug 25;50(4):463-471.
|
||
doi: 10.3724/zdxbyxb-2021-0260.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34704419" target="_blank">34704419</a><a href="/pmc/articles/PMC8714483" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22792386">Mouse models for methylmalonic aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peters HL,
|
||
Pitt JJ,
|
||
Wood LR,
|
||
Hamilton NJ,
|
||
Sarsero JP,
|
||
Buck NE</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2012;7(7):e40609.
|
||
Epub 2012 Jul 9
|
||
doi: 10.1371/journal.pone.0040609.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22792386" target="_blank">22792386</a><a href="/pmc/articles/PMC3392231" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1978672">Primary structure and activity of mouse methylmalonyl-CoA mutase.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilkemeyer MF,
|
||
Crane AM,
|
||
Ledley FD</span><br />
|
||
<span class="medgenPMjournal">Biochem J</span>
|
||
1990 Oct 15;271(2):449-55.
|
||
doi: 10.1042/bj2710449.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1978672" target="_blank">1978672</a><a href="/pmc/articles/PMC1149575" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1977311">Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jansen R,
|
||
Ledley FD</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1990 Nov;47(5):808-14.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1977311" target="_blank">1977311</a><a href="/pmc/articles/PMC1683687" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disorder%20of%20organic%20acid%20metabolism%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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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1263739%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (9)</a></li>
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|
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|
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<li><a href="/gtr/tests?term=C1263739%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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