Pyruvate dehydrogenase complex (PDHC) deficiency is a common genetic disorder leading to lactic acidosis, which can also result from several nongenetic conditions, such as septic shock. The present study reports a case of PDHC deficiency masked by septic shock-induced lactic acidos...
Thepyruvate dehydrogenase complexfacilitates oxidative decarboxylation, the chemical reaction betweenglycolysisand thecitric acid cycle. Presentation PDHA causesLactic acidosis; large amounts oflactic acidin the blood but with a normal pyruvate/lactateratio. Symptoms are varied, and include developmental defec...
Ferriero R, Boutron A, Brivet M, Kerr D, Morava E, Rodenburg RJ, et al. Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects. Ann Clin Transl Neurol. 2014;1(7):462-70.Ferriero, R., Boutron, A., Brivet, M., Kerr, D., Morava, ...
Pyruvate dehydrogenase deficiency (PDH deficiency, OMIM # 312170, 614111, 245348, 245349) is a disorder of pyruvate metabolism caused by multiple defects in the pyruvate dehydrogenase multienzyme complex. From: A Quick Guide to Metabolic Disease Testing Interpretation (Second Edition), 2020 ...
Inborn errors of the pyruvate dehydrogenase complex (PDC) are associated with lactic acidosis, neuroanatomic defects, developmental delay, and early death. PDC deficiency is a clinically heterogeneous disorder, with most mutations locate... ID Wexler,SG Hemalatha,J Mcconnell,... - 《Neurology》 被...
Pyruvate dehydrogenase complex (PDC) deficiency is an inborn metabolic disorder that causes neurological abnormalities. In this report, a murine model of PDC deficiency was analyzed using histology, magnetic resonance (MR) imaging and MR spectroscopy (MRS) and the results compared to PDC-deficient ...
Pyruvate oxidation defects (PODs) are among the most frequent causes of deficiencies in the mitochondrial energy metabolism and represent a substantial subset of classical mitochondrial diseases. PODs are not only caused by deficiency of subunits of the pyruvate dehydrogenase complex (PDHC) but also by...
Magnesium ions are also necessary cofactors of the enzymes pyruvate decarboxylase, lipoyl transacetylase, and lipoyl dehydrogenase. The enzymes are present in specific quantitative relationships and fix the structure of the enzyme complex, which does not dissociate under normal conditions. Pyruvate ...
Pyruvate dehydrogenase complex (PDC) deficiency is a relatively common mitochondrial disorder that primarily presents with neurological manifestations and lactic acidemia. We analyzed the clinical outcomes and neurological features of 59 consented symptomatic subjects (27 M, 32 F), who were confirmed to ...
complex In a lower percentage of cases,mutations take place in the E1β subunit,inherited as an autosomal-recessive trait 1 Pyruvate dehydrogenase complex deficiency is a cl inical ly heterogeneous disorder The main presentations include hypotonia, episodic apnea, convulsions,weak suck, dysmorphic ...