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 (G985) in the MCAD gene
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Cited by (78)
Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China
2022, Clinica Chimica ActaCitation Excerpt :The incidence, the spectrum, and the genetic characteristics of hypermethioninemia vary dramatically in different regions and populations. ACADM pathogenic variant c.985A > G (p.Lys329Glu) is the most common pathogenic variant in European populations[10]. Individuals with homozygous variant for the common c.985A > G have the highest C8 newborn screen values and are most likely to have neonatal symptoms[10,11].
Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: Identification of a novel variant
2012, Clinical BiochemistryCitation Excerpt :Real time PCR-based genotyping assays have been designed for the rapid detection of the aforementioned mutations, in order to further assess in a future study the prevalence of this frameshift aberration in the Greek population. As far as the c.985A > G allele in our confirmed MCADD cohort is concerned, the frequency of heterozygote samples identified through NBS is much less than the one detected in the clinically ascertained cohort, which is in concordance with the literature [12]. The higher genotypic heterogeneity of the NBS group is also highlighted by the identification of a novel possibly pathogenic allele.
Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency
2012, Molecular Genetics and MetabolismCitation Excerpt :Blood acylcarnitine, urinary organic acid analyses, MCAD activity and mutation analyses are major tools for diagnosis of MCADD. A common c.985A > G mutation has been reported in 80–90% of Caucasian patients [8–16] while c.449–452delCTGA mutation was identified in 45% of mutant alleles in Japanese patients with MCADD [17]. In recent years, the detection incidence of the presymptomatic patients with MCADD has increased since the neonatal mass screening was expanded in Japan.
Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification
2005, Genetics in MedicineCitation Excerpt :The gene for MCAD, ACADM, is located on chromosome 1p31 and consists of 12 exons spanning 44 kb of DNA.8 The 985A>G (p.K329E) mutation is the most common gene variant accounting for 85% to 90% of alleles detected in clinically symptomatic Caucasian patients of Northern European descent but only for 60% of defective alleles of patients diagnosed by NBS.3,9,10. In addition, approximately 40 other, mostly private mutations have been reported.3,4,11
Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene
2004, Molecular Genetics and Metabolism