Prenatal diagnosis of propionic acidemia

In this report we summarize our experience in prenatal diagnosis of propionic acidemia (PA) since 1987. Overall, we have investigated 25 pregnancies at risk from 19 unrelated families. Until genetic structure of the genes involved in PA was elucidated, prenatal diagnosis has been successfully performed by means of metabolite quantitation and/or enzymatic assays in foetal issue. Today, direct propionyl-CoA carboxylase activity assay in combination with molecular analysis in chorion villi can be regarded as a fast and reliable method of choice for prenatal diagnosis of this organic acidemia. Copyright © 2004 John Wiley & Sons, Ltd.     

Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase

Prenatal diagnosis of propionic acidemia was achieved by the direct assay of propionyl CoA carboxylase in chorionic villi. The diagnosis was confirmed by determination of methylcitrate in amniotic fluid and measurement of propionyl CoA carboxylase in the liver from the abortion. Discrepancy between [¹⁴C]-propionate incorporation into protein of chorionic villi or cultured chorionic cells and propionyl CoA carboxylase activity is reported.