Synthetase and Acetyl-CoA Synthetase are enzymes present in the fatty acid metabolism, preserved in D.
The carnitine acyltransferases and their role in modulating acyl-CoA
Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA
dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.
For instance, there has been some confusion about the clinical phenotype of short-chain acyl-CoA
dehydrogenase deficiency (SCAD), with a broad range of symptoms reported.
dehydrogenase deficiency (MADD) is an autosomal recessive inherited disease that is caused by mutations in the electron transfer flavoprotein A ( ETFA ), electron transfer flavoprotein B ( ETFB ), or electron transfer flavoprotein dehydrogenase ( ETFDH ) genes.
Moreover excess acetyl-CoA contributes to mitochondrial fatty acid [beta]-oxidation enzymes acetylation at lysine residue and decreased the activity of long chain acyl-CoA
dehydrogenase (LCAD) and [beta]-hydroxyacyl-CoA dehydrogenase involved in lipid accumulation and metabolic syndrome development [114,115].
The activities of Acyl-CoA
oxidase (AOX) fatty acid synthase (FAS) and 3-hydroxy-3-methyl-glutaryl- CoA reductase (HMG-CoA reductase) in liver were determined in the present study.
dehydrogenase deficiency is a poorly characterized mitochondrial fatty acid [beta]-oxidation disorder with a very variable clinical picture and at least 35 inactivating mutations and some polymorphic variants have been reported in the SCAD gene (9).
It is important for the mitochondrial oxidation of fatty acids, it is a critical source of energy and also protects the cell from acyl-CoA
excretion through the generation of acylcarnitines (1).
Furthermore, the treatment suppressed cardiac overexpression of mRNAs encoding for FA transport protein, peroxisome proliferator-activated receptor (PPAR)-alpha, carnitine palmitoyltransferase-1, acyl-CoA
oxidase and 5'-AMP-activated protein kinase alpha2, and restored downregulated cardiac acetyl-CoA carboxylase mRNA expression in ZDF rats, whereas it showed little effect in Zucker lean rats.
Interestingly, the enzymes for lipid metabolism such as lipoprotein lipase (Lpl, 33-fold), cytosolic acyl-CoA
thioesterase (Ctel, 5-fold), and proteasome 26S subunit ATPase-3 (Pmsc3, 4-fold) were increased.
Molecular testing for the most common genetic mutation (G985A) seen in medium-chain acyl-CoA
dehydrogenase deficiency, a fatty acid oxidation disorder, confirmed the diagnosis in two children.