Quantitative acylcarnitine determination by UHPLC-MS/MS - Going beyond tandem MS acylcarnitine "profiles".
Cleveland, United States. In Mol Genet Metab, Dec 2015
In this report, we present results from the application of our validated UHPLC-MS/MS second-tier method for the quantification of total carnitine, free carnitine, butyrobetaine, and acylcarnitines to patient samples with known diagnoses: malonic acidemia, short-chain acyl-CoA dehydrogenase deficiency (SCADD) or isobutyryl-CoA dehydrogenase deficiency (IBD), 3-methyl-crotonyl carboxylase deficiency (3-MCC) or ß-ketothiolase deficiency (BKT), and methylmalonic acidemia (MMA).
The importance of ensemble averaging in enzyme kinetics.
Barcelona, Spain. In Acc Chem Res, Mar 2015
Systems discussed include hydride transfer in alcohol dehydrogenase, xylose isomerase, and thymidylate synthase, proton transfer in methylamine dehydrogenase, hydrogen atom transfer in methylmalonyl-CoA mutase, and nucleophilic substitution in haloalkane dehalogenase and two-dimensional potentials of mean force for potentially coupled proton and hydride transfer in the β-oxidation of butyryl-coenzyme A catalyzed by short-chain acyl-CoA dehydrogenase and in the pyruvate to lactate transformation catalyzed by lactate dehydrogenase.
New Oral Anticoagulants in Coronary Artery Disease.
Mannheim, Germany. In Cardiovasc Hematol Disord Drug Targets, 2014
This review aims to summarize the current guidelinebased recommendations about the use of new oral anticoagulants (NOACs) in patients with stable CAD (SCAD), acute coronary syndromes (ACS), percutaneous coronary interventions (PCI) and in patients with concomitant atrial fibrillation (AF).
Energy conservation via electron bifurcating ferredoxin reduction and proton/Na(+) translocating ferredoxin oxidation.
Marburg an der Lahn, Germany. In Biochim Biophys Acta, 2013
FBEB has been detected in the clostridial butyryl-CoA dehydrogenase/electron transferring flavoprotein complex (BcdA-EtfBC), the multisubunit [FeFe]hydrogenase from Thermotoga maritima (HydABC) and from acetogenic bacteria, the [NiFe]hydrogenase/heterodisulfide reductase (MvhADG-HdrABC) from methanogenic archaea, and the transhydrogenase (NfnAB) from many Gram positive and Gram negative bacteria and from anaerobic archaea.
Short-Chain Acyl-CoA Dehydrogenase Deficiency
Seattle, United States. In Unknown Journal, 2011
CLINICAL CHARACTERISTICS: The clinical findings in those with confirmed short-chain acyl-coA dehydrogenase (SCAD) deficiency range from severe (dysmorphic facial features, feeding difficulties/failure to thrive, metabolic acidosis, ketotic hypoglycemia, lethargy, developmental delay, seizures, hypotonia, dystonia, and myopathy) to normal.
A genome-wide perspective of genetic variation in human metabolism.
München, Germany. In Nat Genet, 2010
For eight out of nine replicated loci (FADS1, ELOVL2, ACADS, ACADM, ACADL, SPTLC3, ETFDH and SLC16A9), the genetic variant is located in or near genes encoding enzymes or solute carriers whose functions match the associating metabolic traits.