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Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase |
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| Authors: | B Chadefaux C Augereau D Rabier F Rocchiccioli J Boué J F Oury P Kamoun |
| Institution: | 1. Laboratoire de Biochimie Médicate B (Pr. P. Kamoun) et Département d' Investigation Métabolique des Enfants Malades (Pr. J.M. Sauditbray), Hôpital Necker-Enfants Malades, 75743 Paris Cedex 15., France;2. Unite INSERM U. 73, Chateau de Longchamp, Carrefour Longchamp, Bois de Boulogne, 75016 Paris, France;3. Service de Gynćologie-Obstétrique, Hôpital René Dubos, Avenue de l'lle de France, 95301 Pontoise, France |
| 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. |
| Keywords: | Prenatal diagnosis Propionic acidemia Propionyl CoA carboxylase Chorionic villi |