Van Coster R N, Janssens S, Misson J P, Verloes A, Leroy J G
Department of Paediatrics, University Hospital Gent, Belgium.
Prenat Diagn. 1998 Oct;18(10):1041-4. doi: 10.1002/(sici)1097-0223(1998100)18:10<1041::aid-pd407>3.0.co;2-j.
Pyruvate carboxylase (PC) deficiency is a rare metabolic disorder in infants and children, most frequently with fatal outcome. Its prenatal diagnosis by radiometric assay in cultured amniocytes has previously been reported. We present and discuss the prenatal diagnosis of PC deficiency by direct measurement of PC activity in chorionic villi, in two subsequent pregnancies in a family who previously lost a child affected by PC deficiency. In the next pregnancy PC was unmeasurably low in chorionic villi whereas in control samples its activity was between 0.8 and 3.3 nmol min-1 mg protein-1. Following elective termination of the pregnancy PC was shown to be totally inactive in post-mortem fetal liver. In the most recent pregnancy of the proband's mother PC was normally active in the chorionic villi. The product of this pregnancy was a normal boy.
丙酮酸羧化酶（PC）缺乏症是婴幼儿中一种罕见的代谢紊乱疾病，通常会导致致命后果。此前已有通过对培养的羊膜细胞进行放射性测定来进行产前诊断的报道。我们呈现并讨论了通过直接测量绒毛膜绒毛中PC活性对PC缺乏症进行产前诊断的情况，该诊断应用于一个此前有孩子因PC缺乏症而夭折的家庭的两例后续妊娠。在下一次妊娠中，绒毛膜绒毛中的PC含量低至无法测量，而对照样本中的活性在0.8至3.3纳摩尔·分钟⁻¹·毫克蛋白⁻¹之间。选择性终止妊娠后，尸检胎儿肝脏中的PC被证明完全无活性。在先证者母亲最近一次妊娠中，绒毛膜绒毛中的PC活性正常。此次妊娠的产物是一名健康男婴。
