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

Prenat Diagn. 1988 Feb;8(2):161-4. doi: 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amniotic Fluid / analysis
  • Amniotic Fluid / cytology
  • Amniotic Fluid / enzymology
  • Carboxy-Lyases / analysis
  • Carboxy-Lyases / deficiency*
  • Cells, Cultured
  • Chorionic Villi / analysis
  • Chorionic Villi / enzymology*
  • Female
  • Humans
  • Methylmalonyl-CoA Decarboxylase
  • Pregnancy
  • Pregnancy Trimester, First
  • Prenatal Diagnosis*
  • Propionates / blood*

Substances

  • Propionates
  • Carboxy-Lyases
  • Methylmalonyl-CoA Decarboxylase