Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia

Propionic acidaemia (PA) is an autosomal recessive disease caused by a gene tic deficiency of propionyl-CoA carboxylase (PCC). Defects in the PCCA and PCCB genes that code for the alpha and beta subunits of PCC, respectively, are responsible for PA. A proband with PA was previously shown to carry the c1170insT mutation and the private L519P mutation in the PCCB gene. Here w e report the prenatal diagnosis of an affected fetus based on DNA analysis in chorionic villus tissue. We have also assessed the carrier status in thi s PCCB deficient family, which was not possible with biochemical analysis.