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

Author(s): X.D. Kong1, H.R. Shi1, N. Liu1, Q.H. Wu1, X.J. Xu2, Z.H. Zhao1, N. Lu1, J. Li-Ling3 and D. Luo4

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.