EC Number   |
Application |
Reference |
|---|
    1.3.8.7 | analysis |
application of single exon and multiplex PCR protocol for sequencing based mutation screening of medium-chain acyl-CoA dehydrogenase and ornithine transcarbamylase genes. Both protocols give comparable resultswithout any re-design of the PCR primers or other optimization steps |
697388 |
| 1.3.8.7 | medicine |
among 11 Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency, mutation c.449-452delCTGA accounts for 45%. Seven of 10 independent patients carried at least one copy of the mutation. Phenotypes of homozygous patients with the c.449-452delCTGA mutation varied from asymtomatic to life-threatening metabolic decompensations |
700232 |
| 1.3.8.7 | medicine |
analysis of variant enzymes identified in newborns. Enzyme analyses with hexanoyl-CoA, hexanoyl-CoA + butanoyl-CoA, and phenylpropionyl-CoA show significantly higher residual medium-chain acyl-CoA dehydrogenase activities in subjects with variant ACADM genotypes when compared to patients with classical ACADM genotypes. After prolonged fasting no hypoglycaemia is observed. Increasing concentrations of free fatty acids indicate lipolysis, and ketone body concentrations are sufficient for blood glucose concentrations in 5 out of 6 subjects. Phenylpropionic acid loading demonstrates in vivo residual enzyme activity in all studied subjects |
743393 |
| 1.3.8.7 | medicine |
cloning and functional characterization of mutations with unknown clinical relevance identified in asymptomatic newborns. Eighteen of these mutations were separately cloned into the human ACADM and functionally characterized |
743035 |
| 1.3.8.7 | medicine |
in medium-chain acyl-CoA dehydrogenase deficiency, the affected patients predominantly present high levels of octanoic and decanoic acids and their glycine and carnitine by-products in tissues and body fluids. Treatment of healthy brain mitochondrial preparations with octanoic and decanoic acid markedly increases state 4 respiration and diminishes state 3 respiration as well as the respiratory control ratio, the mitochondrial membrane potential and the matrix NAD(P)H levels. Decanoic acid-elicited increase in oxygen consumption in state 4 respiration is partially prevented by atractyloside. Octanoic and decanoic acid also reduce ADP/O ratio, CCCP-stimulated respiration and the activities of respiratory chain complexes.The major accumulating fatty acids in MCADD may act as uncouplers of oxidative phosphorylation and as metabolic inhibitors. Decanoic acid, but not octanoic acid, provokes a marked mitochondrial swelling and cytochrome c release from mitochondria, reflecting a permeabilization of the inner mitochondrial membrane |
697048 |
| 1.3.8.7 | medicine |
in the Brazilian population, about 0.41% of individuals are heterozygous for the A985G mutation. The mutant homozygous genotype was not found |
698117 |
| 1.3.8.7 | medicine |
inhibitor may become a lead for further development for treating non-insulin-dependent diabetes mellitus |
672585 |
| 1.3.8.7 | medicine |
mutations in the ACADM gene identified in newborn lower the temperature threshold at which loss-of-function occurs. Increased temperature as it occurs during intercurrent infections, significantly increases the risk of further conformational derangement and loss of function of the enzyme, explaining the life-threatening clinical courses observed during fever episodes |
743657 |
| 1.3.8.7 | more |
acyl-CoA dehydrogenase LipB is involved in the introduction of the unusual Dcis3 double bond into the acyl residue of friulimicin |
675827 |
| 1.3.8.7 | more |
AFT10-1, which encodes an acyl-CoA dehydrogenase, is involved in the formation of the 9,10-epoxy-8-hydroxy-9-methyl-decatrienoic acid moiety of the host-specific AF-toxin molecule |
675177 |
