acyl-CoA dehydrogenase (NADPH)

(redirected from Medium-Chain Acyl-CoA Dehydrogenase)
Also found in: Acronyms.

ac·yl-CoA de·hy·dro·gen·ase (NADPH)

enzyme catalyzing the reversible reduction of enoyl-CoA derivatives of chain length 4-16, with NADPH as the hydrogen donor, forming acyl-CoA and NADP+.
Synonym(s): enoyl-CoA reductase

acyl-CoA de·hy·dro·gen·ase (NADPH)

(as'il-kō-ā dē-hī-droj'ĕ-nās)
Enzyme catalyzing the reversible reduction of enoyl-CoA derivatives of chain length 4-16, with NADPH as the hydrogen donor, forming acyl-CoA and NADP+.
References in periodicals archive ?
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.
cis-4-Decenoic acid in plasma: a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency.
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point mutation (A985) in the MCAD gene.
Molecular lesions in patients with medium-chain acyl-CoA dehydrogenase deficiency.
The studies that focused too closely on a single genetic defect, medium-chain acyl-CoA dehydrogenase deficiency, did not identify a significant number of cases to justify continuing the investigation (6-7).
Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling [see comments].
Blood spots have also been used for screening patients at risk for mitochondrial disorders such as medium-chain acyl-CoA dehydrogenase deficiency (19,20) and Pearson syndrome, a multisystem juvenile disorder associated with deletions in the mitochondrial genome (21).
One child had medium-chain acyl-CoA dehydrogenase (MCAD) deficiency; he was homozygous for the common A985G mutation [16].
This is in contrast to the situation for human very long-chain, long-chain, and medium-chain acyl-CoA dehydrogenases, which are stereospecific for the S-enantiomers only of their methyl branched-chain substrates (24).

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