通过直接检测丙酰辅酶A羧化酶对绒毛膜绒毛进行丙酸血症的产前诊断。

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

作者信息

Chadefaux B, Augereau C, Rabier D, Rocchiccioli F, Boué J, Oury J F, Kamoun P

机构信息

Laboratoire de Biochimie Médicale B, Hôpital Necker-Enfants Malades, Paris, France.

出版信息

Prenat Diagn. 1988 Feb;8(2):161-4. doi: 10.1002/pd.1970080211.

DOI:10.1002/pd.1970080211

PMID:3362779

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.

摘要

通过直接检测绒毛膜绒毛中的丙酰辅酶A羧化酶实现了丙酸血症的产前诊断。通过测定羊水柠檬酸甲酯以及测量流产胎儿肝脏中的丙酰辅酶A羧化酶来确诊。本文报道了[14C] - 丙酸盐掺入绒毛膜绒毛或培养的绒毛膜细胞蛋白质中的情况与丙酰辅酶A羧化酶活性之间的差异。