title: Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.
abstract: 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.
authors: Laboratoire de Biochimie Médicale B, Hôpital Necker-Enfants Malades, Paris, France.
authors: B
authors: B
authors: Chadefaux
authors: C
authors: C
authors: Augereau
authors: D
authors: D
authors: Rabier
authors: F
authors: F
authors: Rocchiccioli
authors: J
authors: J
authors: Boué
authors: J F
authors: JF
authors: Oury
authors: P
authors: P
authors: Kamoun
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000653:Amniotic Fluid / Q000032:analysis / Q000166:cytology / Q000201:enzymology; D002262:Carboxy-Lyases / Q000032:analysis / Q000172:deficiency*; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000032:analysis / Q000201:enzymology*; D005260:Female; D006801:Humans; D043586:Methylmalonyl-CoA Decarboxylase; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D011422:Propionates / Q000097:blood*
chemical_list: D011422:Propionates; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase