Isolated methylmalonic aciduria

Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria

X. D. Kong, Shi, H. R., Liu, N., Wu, Q. H., Xu, X. J., Zhao, Z. H., Lu, N., Li-Ling, J., and Luo, D., Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria, vol. 13, pp. 8234-8240, 2014.

Isolated methylmalonic acidemia (MMA) is a genetically heterogeneous disorder caused mainly by deficiency of methylmalonyl-CoA mutase. In the present study, we analyzed MUT gene mutations in 3 Chinese couples with a birth history of isolated MMA. We also provided prenatal diagnoses for the detected mutation. Exons and exon-intron boundaries of the MUT gene were analyzed by polymerase chain reaction and direct sequencing. Prenatal genetic diagnoses were performed by chorionic villus sampling after the genotypes of parents were determined.

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