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Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD or PDH deficiency) is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism. PDCD is a genetic disease resulting from mutations in one of the components of the pyruvate dehydrogenase complex (PDC). [1]
Researchers at the University of Alberta theorized in 2007 that DCA might have therapeutic benefits against many types of cancer. [26] [27] Pyruvate dehydrogenase catalyses the rate-limiting step in the aerobic oxidation of glucose and pyruvate and links glycolysis to the tricarboxylic acid cycle (TCA).
Pyruvate dehydrogenase (PDH) deficiency is a congenital degenerative metabolic disease resulting from a mutation of the pyruvate dehydrogenase complex (PDC) located on the X chromosome. While defects have been identified in all 3 enzymes of the complex, the E1-α subunit is predominantly the culprit.
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.
HIF1 then would activate the pyruvate dehydrogenase kinase (PDKs), which inactivate the mitochondrial pyruvate dehydrogenase complex. It reduces the flow of glucose-derived pyruvate into the tricarboxylic acid (citric acid cycle or TCA cycle). This reduction in pyruvate flux into the TCA cycle decreases the rate of oxidative phosphorylation and ...
Pyruvate dehydrogenase kinase (also pyruvate dehydrogenase complex kinase, PDC kinase, or PDK; EC 2.7.11.2) is a kinase enzyme which acts to inactivate the enzyme pyruvate dehydrogenase by phosphorylating it using ATP. PDK thus participates in the regulation of the pyruvate dehydrogenase complex of
Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells. [ 4 ] [ 5 ] Both autosomal dominant and recessive inheritance have been observed with the disorder; classically, and more commonly, the inheritance is autosomal recessive .
228026 Ensembl ENSG00000152256 ENSMUSG00000006494 UniProt Q15118 Q8BFP9 RefSeq (mRNA) NM_001278549 NM_002610 NM_172665 NM_001360002 RefSeq (protein) NP_001265478 NP_002601 NP_766253 NP_001346931 Location (UCSC) Chr 2: 172.56 – 172.61 Mb Chr 2: 71.7 – 71.73 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Pyruvate dehydrogenase lipoamide kinase isozyme 1, mitochondrial is an enzyme ...