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[|Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency Review Article]
 * An overview of Medium Chain Acyl-Coenzyme A Dehydrogenase. **

Review article of Medium chain acyl-coenzyme A dehydrogenase deficiency. MCADD is an inherited recessive autosomal disorder of a mutated allele that involves the acyl-Coenzyme A dehydrogenase (ACADM) gene; a gene that provides the code to formulating an enzyme called acyl-coenzyme A dehydrogenase. The most frequent pathogenic variant of this disorder is a single base mutation, 985A>G (p.Lys304Glu) and accounts for 90% of MCADD cases. This variant is especially prevalent in individuals of Northern European descent. 985A>G variant has a similar prevalence observed in gypsies population of Portugal and Native Americans of California but this variant has not been detected in Asian descent populations. Details of prevalence, newborn screening and genetic testing is reviewed here as well.


 * Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency. **



Abstract
 Two Korean pediatric cases of MCADD were identified, which was detected during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. Molecular studies revealed that Patient 1 was a compound heterozygote for c.449_452delCTGA (p.Thr150ArgfsX4) and c.461T>G (p.L154W) mutations, and Patient 2 was a compound heterozygote for c.449_452delCTGA (p.Thr150ArgfsX4) and c.1189T>A (p.Y397N) mutations. This report presents evidence of the biochemical and molecular features of MCADD in Korean patients and, this is the first report of the c.461T>G mutation in the ACADM gene.

**Directory:**
MCADD homepage Materials and Methods Results Discussion References