Medium-chain acyl-CoA dehydrogenase deficiency

A985G mutation incidence in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Brazil

A. C. S. Ferreira, Orlandi, M. P. A., Oliveira, V. C., Malta, F. S. V., Caxito, F. A., Gomes, K. B., Valadares, E. R., and Godard, A. L. B., A985G mutation incidence in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Brazil, vol. 8, pp. 487-493, 2009.

In view of the serious consequences of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and the absence of information about its incidence in the Brazilian population, we examined the frequency of the A985G mutation in the MCAD gene. A retrospective analysis was made of data on 1722 individuals (844 females) genotyped for the A985G mutation in the MCAD gene, using genomic DNA extracted from peripheral blood leukocytes and genotyping with PCR-RFLP; 0.41% of these individuals were heterozygous for the A985G mutation. The mutant homozygous genotype was not found.

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