Gagné R, Lescault A, Grenier A, Laberge C, Mélançon S B, Dallaire L
Prenat Diagn. 1982 Jul;2(3):185-8. doi: 10.1002/pd.1970020307.
A method is proposed for prenatal diagnosis in pregnancies at risk of hereditary tryosinaemia. Affected fetuses were detected on the basis of the abnormal presence in the amniotic fluid of succinylacetone, a metabolite previously identified in sera and urines of patients suffering from hereditary tyrosinaemia. Our data show that the forty amniotic control samples had no detectable succinylacetone, while succinylacetone was found in three out of the thirteen cases at risk. Following the parents' decision, these three fetuses were aborted. The ten other mothers who brought their pregnancies to term had normal infants. Enzymatic analysis from two of their aborted fetuses' livers revealed an absence or a low activity of fumarylaceto-acetate hydrolase (EC 3.7.1.2) compared with control fetal livers of the same age.
本文提出了一种针对有遗传性酪氨酸血症风险的妊娠进行产前诊断的方法。通过检测羊水样本中琥珀酰丙酮的异常存在来发现受影响的胎儿，琥珀酰丙酮是先前在遗传性酪氨酸血症患者的血清和尿液中鉴定出的一种代谢物。我们的数据显示，四十份羊水对照样本中未检测到琥珀酰丙酮，而在十三例有风险的病例中，有三例检测到了琥珀酰丙酮。根据父母的决定，这三名胎儿被终止妊娠。另外十名足月分娩的母亲所生婴儿正常。对其中两名流产胎儿的肝脏进行酶分析发现，与同龄对照胎儿肝脏相比，富马酰乙酰乙酸水解酶（EC 3.7.1.2）缺乏或活性较低。
