Murotsuki J, Uehara S, Okamura K, Yajima A, Oura T, Miyabayashi S
Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan.
Am J Perinatol. 1994 Mar;11(2):160-2. doi: 10.1055/s-2007-994579.
Carbamoyl phosphate synthetase deficiency is a type of an inborn error of metabolism with a poor prognosis. Carbamoyl phosphate synthetase is a liver-specific enzyme, and its deficiency can only be diagnosed by enzyme assay using liver biopsy specimens. A pregnant woman at risk for carbamoyl phosphate synthetase deficiency was evaluated for the purpose of prenatal diagnosis of the condition. Fetal liver biopsy was performed at the 22nd week of gestation. The results of enzyme assays on fetal liver biopsy revealed normal enzymatic activity and the diagnosis of carbamoyl phosphate synthetase deficiency was ruled out prenatally. Methods and safety of fetal liver biopsy are discussed. Measurements of activity of liver-specific enzymes were evaluated with respect to methodology and manner of assessment. Prenatal diagnosis of deficiencies in liver-specific enzymes, which have hitherto been considered difficult to detect before birth, has now become possible.
氨甲酰磷酸合成酶缺乏症是一种预后不良的先天性代谢缺陷病。氨甲酰磷酸合成酶是一种肝脏特异性酶，其缺乏只能通过使用肝活检标本进行酶测定来诊断。为了对氨甲酰磷酸合成酶缺乏症进行产前诊断，对一名有该疾病风险的孕妇进行了评估。在妊娠第22周进行了胎儿肝活检。胎儿肝活检的酶测定结果显示酶活性正常，产前排除了氨甲酰磷酸合成酶缺乏症的诊断。讨论了胎儿肝活检的方法和安全性。对肝脏特异性酶活性的测量在方法学和评估方式方面进行了评价。迄今被认为在出生前难以检测的肝脏特异性酶缺乏症的产前诊断现已成为可能。
