MCAD deficiency is inherited as an autosomal recessive trait and is caused by mutations in the medium-chain acyl-CoA dehydrogenase
(ACADM) gene, which is located on chromosome 1p31 and consists of 12 exons spanning 44 Kb .
Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase
Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase
deficiency with Eu-labeled oligonucleotides and the DELFIA system.
Neonatal screening for medium-chain acyl-CoA dehydrogenase
(MCAD) deficiency in the Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.
For example, one of the disorders included in the expanded panel, medium-chain acyl-CoA dehydrogenase
deficiency (MCAD), involves a simple treatment (i.e., avoiding fasting); thus, proper medical management of a child identified with MCAD can be lifesaving.
Medium-chain Acyl-CoA dehydrogenase
(MCAD) deficiency is an inherited enzyme deficiency.
For example, for medium-chain acyl-CoA dehydrogenase
deficiency (MCADD), the ratios of acylcarnitines C8:C10, C8:C6, C8:C2, and C8:C12 have proven useful (1-5).
He was among the first to describe the fatal clinical phenotype and the first to identify neonatal metabolite abnormalities in medium-chain acyl-CoA dehydrogenase
The range of detectable disorders includes medium-chain acyl-CoA dehydrogenase
deficiency (MCAD), one of several related fatty acid oxidation disorders.
Myristic acid (C14) is used to detect defects in mediumchain FAO, such as medium-chain acyl-CoA dehydrogenase
As a newborn-screening assay, MS/MS is not merely a method for detecting medium-chain acyl-CoA dehydrogenase
(MCAD) deficiency (7), nor is it simply an improved method for accurate neonatal detection of PKU with a false-positive rate 10-fold lower than the best method previously available (8).