Abstract

Propionic acidaemia (PA) is an autosomal recessive disease caused by a genetic deficiency of propionyl-CoA carboxylase (PCC). Defects in the PCCA and PCCB genes that code for the α and β 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 we report the prenatal diagnosis of an affected fetus based on DNA analysis in chorionic villus tissue. We have also assessed the carrier status in this PCCB deficient family, which was not possible with biochemical analysis.