Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase
- 1 February 1988
- journal article
- research article
- Published by Wiley in Prenatal Diagnosis
- Vol. 8 (2) , 161-164
- https://doi.org/10.1002/pd.1970080211
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
This publication has 9 references indexed in Scilit:
- Prenatal diagnosis and family studies in a case of propionicacidaemiaClinical Genetics, 2008
- Activity of biotin‐dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosisPrenatal Diagnosis, 1986
- Identification of Methyl-branched Chain Dicarboxylic Acids in Amniotic Fluid and Urine in Propionic and Methylmalonic AcidemiaPediatric Research, 1984
- Prenatal diagnosis of pyruvate carboxylase deficiencyClinica Chimica Acta; International Journal of Clinical Chemistry, 1982
- Prenatal diagnosis of propionic acidemiaJAMA, 1979
- Propionic acidemia: Diagnosis by enzyme assay in frozen leukocytesThe Journal of Pediatrics, 1973
- PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENTJournal of Biological Chemistry, 1951