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<meta name="keywords" content="C1839888, decreased activity of pyruvate dehydrogenase complex, decreased activity of the pdh complex, decreased activity of the pyruvate dehydrogenase complex, finding, pyruvate dehydrogenase complex 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Decreased activity of the pyruvate dehydrogenase complex (Concept Id: C1839888)
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<!--
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UID=326605
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ConceptID=C1839888
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Decreased activity of the pyruvate dehydrogenase complex</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326605</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."><span class="highlight" style="background-color:">C1839888</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Decreased activity of pyruvate dehydrogenase complex</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002928">HP:0002928</a></td></tr>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1839888[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=326605">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=326605" ref="ncbi_uid=326605">V</a></span></span><span class="TLline">Decreased activity of the pyruvate dehydrogenase complex</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1369113" ref="tree=MeSH" title="MedGen record for Abnormal cellular phenotype">Abnormal cellular phenotype</a></span><ul><li><span class="TLline"><a href="/medgen/869173" ref="tree=MeSH" title="MedGen record for Abnormal cellular physiology">Abnormal cellular physiology</a></span><ul><li><span class="TLline"><a href="/medgen/892403" ref="tree=MeSH" title="MedGen record for Abnormality of the mitochondrion">Abnormality of the mitochondrion</a></span><ul><li><span class="TLline"><a href="/medgen/867369" ref="tree=MeSH" title="MedGen record for Abnormality of mitochondrial metabolism">Abnormality of mitochondrial metabolism</a></span><ul><li><span class="matched_ds">Decreased activity of the pyruvate dehydrogenase complex</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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||
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_332448"><div><strong>Pyruvate dehydrogenase phosphatase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332448</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.">C1837429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pyruvate dehydrogenase phosphatase deficiency (PDHPD) is an autosomal recessive disorder of pyruvate metabolism characterized by neonatal/infantile and childhood lactic acidosis, normal lactate to pyruvate ratio, elevated plasma alanine, delayed psychomotor development, epileptic encephalopathy, and hypotonia (summary by Bedoyan et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of pyruvate dehydrogenase (PDH) deficiency, see 312170.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332448">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_326486"><div><strong>Pyruvate dehydrogenase E1-alpha deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326486</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.">C1839413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). Genetic Heterogeneity of Pyruvate Dehydrogenase Complex Deficiency PDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD; 245349) caused by mutation in the component X gene (PDHX; 608769) on chromosome 11p13; a form (PDHBD; 614111) caused by mutation in the PDHB gene (179060) on chromosome 3p14; a form (PDHDD; 245348) caused by mutation in the DLAT gene (608770) on chromosome 11q23; a form (PDHPD; 608782) caused by mutation in the PDP1 gene (605993) on chromosome 8q22; and a form (PDHLD; 614462) caused by mutation in the LIAS gene (607031) on chromosome 4p14.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326486">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376430"><div><strong>Tricarboxylic acid cycle, defect of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376430</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.">C1848746</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376430">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343383"><div><strong>Pyruvate dehydrogenase E3-binding protein deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343383</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.">C1855553</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343383">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343386"><div><strong>Pyruvate dehydrogenase E2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343386</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.">C1855565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343386">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482008"><div><strong>Multiple mitochondrial dysfunctions syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482008</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.">C3280378</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; 605899), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482008">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482517"><div><strong>Lipoic acid synthetase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482517</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.">C3280887</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) is a severe autosomal recessive disorder characterized by onset of hypotonia and seizures associated with increased serum glycine and lactate in the first days of life. Affected individuals develop an encephalopathy or severely delayed psychomotor development, which may result in death in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; 605899), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including HGCLAS, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482517">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_905660"><div><strong>Spasticity-ataxia-gait anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905660</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.">C4225178</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Childhood-onset spasticity with hyperglycinemia is an autosomal recessive disorder characterized by onset of slowly progressive spasticity that results in impaired gait in the first decade of life. Imaging of the central nervous system shows leukodystrophy and/or lesions in the upper spinal cord. More variable features include visual defects and mild learning disabilities. Serum glycine is increased, but CSF glycine is only mildly increased or normal; serum lactate is normal. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; 605899), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including SPAHGC, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905660">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902729"><div><strong>Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902729</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.">C4225391</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) represents a clinical spectrum in which several phenotypes have been described: The most common phenotype presents in the neonatal period with severe encephalopathy and lactic acidosis and later manifests Leigh-like signs and symptoms. Those with presentation in the neonatal period typically have severe hypotonia, encephalopathy, or neonatal seizures within the first few days of life. Signs and symptoms typically progress quickly and the affected individual ultimately succumbs to central apnea or arrhythmia. A second group of affected individuals present in infancy with developmental regression resulting in severe developmental delay. A third group of affected individuals have normal development with isolated paroxysmal dystonia that may be exacerbated by illness or exertion. Across all three groups, T2 hyperintensity in the basal ganglia is very common, and may affect any part of the basal ganglia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902729">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1845781"><div><strong>Combined oxidative phosphorylation deficiency 59</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845781</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.">C5882730</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-59 (COXPD59) may present as a lethal infantile form of Leigh syndrome (see 256000) or as a milder disorder with hypertrophic cardiomyopathy, lactic acidosis, attention deficit-hyperactivity disorder (ADHD) and survival into adulthood (summary by Amarasekera et al., 2023). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1845781">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1845781" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 59</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482517" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipoic acid synthetase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902729" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482008" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple mitochondrial dysfunctions syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326486" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyruvate dehydrogenase E1-alpha deficiency</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyruvate dehydrogenase E2 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyruvate dehydrogenase E3-binding protein deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332448" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyruvate dehydrogenase phosphatase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905660" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity-ataxia-gait anomalies syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376430" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tricarboxylic acid cycle, defect of</a></div></span></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/38608261">Pharmacological Activation of PDC Flux Reverses Lipid-Induced Inhibition of Insulin Action in Muscle During Recovery From Exercise.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carl CS,
|
||
Jensen MM,
|
||
Sjøberg KA,
|
||
Constantin-Teodosiu D,
|
||
Hill IR,
|
||
Kjøbsted R,
|
||
Greenhaff PL,
|
||
Wojtaszewski JFP,
|
||
Richter EA,
|
||
Fritzen AM,
|
||
Kiens B</span><br />
|
||
<span class="medgenPMjournal">Diabetes</span>
|
||
2024 Jul 1;73(7):1072-1083.
|
||
doi: 10.2337/db23-0879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38608261" target="_blank">38608261</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36318942">Bronchopulmonary Dysplasia and Impaired Neurodevelopment-What May Be the Missing Link?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kramer BW,
|
||
Niklas V,
|
||
Abman S</span><br />
|
||
<span class="medgenPMjournal">Am J Perinatol</span>
|
||
2022 Dec;39(S 01):S14-S17.
|
||
Epub 2022 Nov 1
|
||
doi: 10.1055/s-0042-1756677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36318942" target="_blank">36318942</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32016856">Inhibition of pyruvate dehydrogenase complex activity by 3-bromopyruvate affects blood platelets responses in type 2 diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michno A,
|
||
Grużewska K,
|
||
Bielarczyk H,
|
||
Zyśk M,
|
||
Szutowicz A</span><br />
|
||
<span class="medgenPMjournal">Pharmacol Rep</span>
|
||
2020 Feb;72(1):225-237.
|
||
Epub 2020 Jan 10
|
||
doi: 10.1007/s43440-019-00005-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32016856" target="_blank">32016856</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26733088">Pyruvate Dehydrogenase Activity Is Decreased in Emergency Department Patients With Diabetic Ketoacidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andersen LW,
|
||
Berg KM,
|
||
Montissol S,
|
||
Sulmonte C,
|
||
Balkema J,
|
||
Cocchi MN,
|
||
Wolfe RE,
|
||
Balasubramanyam A,
|
||
Liu X,
|
||
Donnino MW</span><br />
|
||
<span class="medgenPMjournal">Acad Emerg Med</span>
|
||
2016 Jun;23(6):685-9.
|
||
Epub 2016 Feb 17
|
||
doi: 10.1111/acem.12897.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26733088" target="_blank">26733088</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17310282">Pyruvate dehydrogenase kinase regulatory mechanisms and inhibition in treating diabetes, heart ischemia, and cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roche TE,
|
||
Hiromasa Y</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
||
2007 Apr;64(7-8):830-49.
|
||
doi: 10.1007/s00018-007-6380-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17310282" target="_blank">17310282</a><a href="/pmc/articles/PMC11136253" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20activity%20of%20the%20pyruvate%20dehydrogenase%20complex%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 (51)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39138149">Dihydrolipoamide dehydrogenase (DLD) is a novel molecular target of bortezomib.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feng Y,
|
||
Luo H,
|
||
Huang J,
|
||
Zhang Y,
|
||
Wen J,
|
||
Li L,
|
||
Mi Z,
|
||
Gao Q,
|
||
He S,
|
||
Liu X,
|
||
Zhai X,
|
||
Wang X,
|
||
Zhang L,
|
||
Niu T,
|
||
Zheng Y</span><br />
|
||
<span class="medgenPMjournal">Cell Death Dis</span>
|
||
2024 Aug 13;15(8):588.
|
||
doi: 10.1038/s41419-024-06982-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39138149" target="_blank">39138149</a><a href="/pmc/articles/PMC11322525" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38608261">Pharmacological Activation of PDC Flux Reverses Lipid-Induced Inhibition of Insulin Action in Muscle During Recovery From Exercise.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carl CS,
|
||
Jensen MM,
|
||
Sjøberg KA,
|
||
Constantin-Teodosiu D,
|
||
Hill IR,
|
||
Kjøbsted R,
|
||
Greenhaff PL,
|
||
Wojtaszewski JFP,
|
||
Richter EA,
|
||
Fritzen AM,
|
||
Kiens B</span><br />
|
||
<span class="medgenPMjournal">Diabetes</span>
|
||
2024 Jul 1;73(7):1072-1083.
|
||
doi: 10.2337/db23-0879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38608261" target="_blank">38608261</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34489398">Mitochondrial dysfunction induces radioresistance in colorectal cancer by activating [Ca(2+)](m)-PDP1-PDH-histone acetylation retrograde signaling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi Y,
|
||
Wang Y,
|
||
Jiang H,
|
||
Sun X,
|
||
Xu H,
|
||
Wei X,
|
||
Wei Y,
|
||
Xiao G,
|
||
Song Z,
|
||
Zhou F</span><br />
|
||
<span class="medgenPMjournal">Cell Death Dis</span>
|
||
2021 Sep 6;12(9):837.
|
||
doi: 10.1038/s41419-021-03984-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34489398" target="_blank">34489398</a><a href="/pmc/articles/PMC8421510" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34156167">Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma Y,
|
||
Zhang Y,
|
||
Zhang T,
|
||
Man Z,
|
||
Su X,
|
||
Hao S,
|
||
Wang T</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2021 Aug;9(8):e1728.
|
||
Epub 2021 Jun 22
|
||
doi: 10.1002/mgg3.1728.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34156167" target="_blank">34156167</a><a href="/pmc/articles/PMC8404224" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622387">Disorders of pyruvate metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Meirleir L</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1667-73.
|
||
doi: 10.1016/B978-0-444-59565-2.00034-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622387" target="_blank">23622387</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20activity%20of%20the%20pyruvate%20dehydrogenase%20complex%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 (48)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25526377">Pyruvate Dehydrogenase Activity and Quantity Decreases After Coronary Artery Bypass Grafting: a Prospective Observational Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andersen LW,
|
||
Liu X,
|
||
Peng TJ,
|
||
Giberson TA,
|
||
Khabbaz KR,
|
||
Donnino MW</span><br />
|
||
<span class="medgenPMjournal">Shock</span>
|
||
2015 Mar;43(3):250-4.
|
||
doi: 10.1097/SHK.0000000000000306.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25526377" target="_blank">25526377</a><a href="/pmc/articles/PMC4472607" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17310282">Pyruvate dehydrogenase kinase regulatory mechanisms and inhibition in treating diabetes, heart ischemia, and cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roche TE,
|
||
Hiromasa Y</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
||
2007 Apr;64(7-8):830-49.
|
||
doi: 10.1007/s00018-007-6380-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17310282" target="_blank">17310282</a><a href="/pmc/articles/PMC11136253" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16725381">Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berendzen K,
|
||
Theriaque DW,
|
||
Shuster J,
|
||
Stacpoole PW</span><br />
|
||
<span class="medgenPMjournal">Mitochondrion</span>
|
||
2006 Jun;6(3):126-35.
|
||
Epub 2006 May 3
|
||
doi: 10.1016/j.mito.2006.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16725381" target="_blank">16725381</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10889796">Fatty acids and insulin secretion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grill V,
|
||
Qvigstad E</span><br />
|
||
<span class="medgenPMjournal">Br J Nutr</span>
|
||
2000 Mar;83 Suppl 1:S79-84.
|
||
doi: 10.1017/s0007114500000994.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10889796" target="_blank">10889796</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9530159">Hepatic pyruvate dehydrogenase activity in humans: effect of cirrhosis, transplantation, and dichloroacetate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shangraw RE,
|
||
Rabkin JM,
|
||
Lopaschuk GD</span><br />
|
||
<span class="medgenPMjournal">Am J Physiol</span>
|
||
1998 Mar;274(3):G569-77.
|
||
doi: 10.1152/ajpgi.1998.274.3.G569.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9530159" target="_blank">9530159</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20activity%20of%20the%20pyruvate%20dehydrogenase%20complex%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 (43)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39138149">Dihydrolipoamide dehydrogenase (DLD) is a novel molecular target of bortezomib.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feng Y,
|
||
Luo H,
|
||
Huang J,
|
||
Zhang Y,
|
||
Wen J,
|
||
Li L,
|
||
Mi Z,
|
||
Gao Q,
|
||
He S,
|
||
Liu X,
|
||
Zhai X,
|
||
Wang X,
|
||
Zhang L,
|
||
Niu T,
|
||
Zheng Y</span><br />
|
||
<span class="medgenPMjournal">Cell Death Dis</span>
|
||
2024 Aug 13;15(8):588.
|
||
doi: 10.1038/s41419-024-06982-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39138149" target="_blank">39138149</a><a href="/pmc/articles/PMC11322525" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34489398">Mitochondrial dysfunction induces radioresistance in colorectal cancer by activating [Ca(2+)](m)-PDP1-PDH-histone acetylation retrograde signaling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi Y,
|
||
Wang Y,
|
||
Jiang H,
|
||
Sun X,
|
||
Xu H,
|
||
Wei X,
|
||
Wei Y,
|
||
Xiao G,
|
||
Song Z,
|
||
Zhou F</span><br />
|
||
<span class="medgenPMjournal">Cell Death Dis</span>
|
||
2021 Sep 6;12(9):837.
|
||
doi: 10.1038/s41419-021-03984-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34489398" target="_blank">34489398</a><a href="/pmc/articles/PMC8421510" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33664850">Vitamin C activates pyruvate dehydrogenase (PDH) targeting the mitochondrial tricarboxylic acid (TCA) cycle in hypoxic KRAS mutant colon cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cenigaonandia-Campillo A,
|
||
Serna-Blasco R,
|
||
Gómez-Ocabo L,
|
||
Solanes-Casado S,
|
||
Baños-Herraiz N,
|
||
Puerto-Nevado LD,
|
||
Cañas JA,
|
||
Aceñero MJ,
|
||
García-Foncillas J,
|
||
Aguilera Ó</span><br />
|
||
<span class="medgenPMjournal">Theranostics</span>
|
||
2021;11(8):3595-3606.
|
||
Epub 2021 Jan 25
|
||
doi: 10.7150/thno.51265.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33664850" target="_blank">33664850</a><a href="/pmc/articles/PMC7914362" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32444142">Structural basis for the inhibition of PDK2 by novel ATP- and lipoyl-binding site targeting compounds.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kang J,
|
||
Pagire HS,
|
||
Kang D,
|
||
Song YH,
|
||
Lee IK,
|
||
Lee KT,
|
||
Park CJ,
|
||
Ahn JH,
|
||
Kim J</span><br />
|
||
<span class="medgenPMjournal">Biochem Biophys Res Commun</span>
|
||
2020 Jun 30;527(3):778-784.
|
||
Epub 2020 May 20
|
||
doi: 10.1016/j.bbrc.2020.04.102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32444142" target="_blank">32444142</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30787166">Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jakkamsetti V,
|
||
Marin-Valencia I,
|
||
Ma Q,
|
||
Good LB,
|
||
Terrill T,
|
||
Rajasekaran K,
|
||
Pichumani K,
|
||
Khemtong C,
|
||
Hooshyar MA,
|
||
Sundarrajan C,
|
||
Patel MS,
|
||
Bachoo RM,
|
||
Malloy CR,
|
||
Pascual JM</span><br />
|
||
<span class="medgenPMjournal">Sci Transl Med</span>
|
||
2019 Feb 20;11(480)
|
||
doi: 10.1126/scitranslmed.aan0457.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30787166" target="_blank">30787166</a><a href="/pmc/articles/PMC6637765" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20activity%20of%20the%20pyruvate%20dehydrogenase%20complex%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 (29)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37188779">Targeting PDK2 rescues stress-induced impaired brain energy metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang C,
|
||
Cui C,
|
||
Xu P,
|
||
Zhu L,
|
||
Xue H,
|
||
Chen B,
|
||
Jiang P</span><br />
|
||
<span class="medgenPMjournal">Mol Psychiatry</span>
|
||
2023 Oct;28(10):4138-4150.
|
||
Epub 2023 May 15
|
||
doi: 10.1038/s41380-023-02098-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37188779" target="_blank">37188779</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34489398">Mitochondrial dysfunction induces radioresistance in colorectal cancer by activating [Ca(2+)](m)-PDP1-PDH-histone acetylation retrograde signaling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi Y,
|
||
Wang Y,
|
||
Jiang H,
|
||
Sun X,
|
||
Xu H,
|
||
Wei X,
|
||
Wei Y,
|
||
Xiao G,
|
||
Song Z,
|
||
Zhou F</span><br />
|
||
<span class="medgenPMjournal">Cell Death Dis</span>
|
||
2021 Sep 6;12(9):837.
|
||
doi: 10.1038/s41419-021-03984-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34489398" target="_blank">34489398</a><a href="/pmc/articles/PMC8421510" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33664850">Vitamin C activates pyruvate dehydrogenase (PDH) targeting the mitochondrial tricarboxylic acid (TCA) cycle in hypoxic KRAS mutant colon cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cenigaonandia-Campillo A,
|
||
Serna-Blasco R,
|
||
Gómez-Ocabo L,
|
||
Solanes-Casado S,
|
||
Baños-Herraiz N,
|
||
Puerto-Nevado LD,
|
||
Cañas JA,
|
||
Aceñero MJ,
|
||
García-Foncillas J,
|
||
Aguilera Ó</span><br />
|
||
<span class="medgenPMjournal">Theranostics</span>
|
||
2021;11(8):3595-3606.
|
||
Epub 2021 Jan 25
|
||
doi: 10.7150/thno.51265.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33664850" target="_blank">33664850</a><a href="/pmc/articles/PMC7914362" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28371201">Ketone bodies mimic the life span extending properties of caloric restriction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veech RL,
|
||
Bradshaw PC,
|
||
Clarke K,
|
||
Curtis W,
|
||
Pawlosky R,
|
||
King MT</span><br />
|
||
<span class="medgenPMjournal">IUBMB Life</span>
|
||
2017 May;69(5):305-314.
|
||
Epub 2017 Apr 3
|
||
doi: 10.1002/iub.1627.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28371201" target="_blank">28371201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24488230">Cerebral effects of ammonia in liver disease: current hypotheses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ott P,
|
||
Vilstrup H</span><br />
|
||
<span class="medgenPMjournal">Metab Brain Dis</span>
|
||
2014 Dec;29(4):901-11.
|
||
Epub 2014 Feb 4
|
||
doi: 10.1007/s11011-014-9494-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24488230" target="_blank">24488230</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20activity%20of%20the%20pyruvate%20dehydrogenase%20complex%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 (63)</a></div></div>
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