Kleijer W J, Blom W, Huijmans J G, Mooyman M C, Berger R, Niermeijer M F
Prenat Diagn. 1984 Mar-Apr;4(2):113-8. doi: 10.1002/pd.1970040205.
In three pregnancies at risk for citrullinemia affected fetuses were predicted both by strongly increased levels of citrulline in the amniotic fluid and by the reduced incorporation of 14C-citrulline into TCA-precipitable material in cultured amniotic fluid cells. The prenatal diagnoses of affected fetuses were confirmed after termination of the pregnancies by direct and indirect assays of argininosuccinate synthetase in the fetal livers and fibroblasts respectively. Measurement of the citrulline concentration in amniotic fluid appears to be a valuable adjunct in the prenatal diagnosis of citrullinemia.
在三例有瓜氨酸血症风险的妊娠中，羊水瓜氨酸水平大幅升高以及培养的羊水细胞中14C-瓜氨酸掺入三羧酸循环可沉淀物质减少均提示胎儿可能患病。妊娠终止后，分别通过对胎儿肝脏和纤维母细胞中的精氨琥珀酸合成酶进行直接和间接检测，确诊了患病胎儿。羊水瓜氨酸浓度测定似乎是瓜氨酸血症产前诊断的一项有价值的辅助手段。
