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苯丙酮尿(PKU)是一种先天代谢异常,有智力障碍及其他脑损伤特征。而且PKU母亲的无PKU子女也会受到损害。由于常规新生儿筛选及对PKU的早期治疗,使许多PKU女孩的智力保持在正常状态。目前关于母亲PKU的争论首先在于母亲PKU或高苯丙氨酸血症的程度和胎儿所受影响之间的关系〔作者以血苯丙氨酸(phe)浓度升高但<16mg/dl及尿中无苯丙酮为高苯丙氨酸血症〕。其次为妊娠期治疗控制母生化异常是否能预防胎儿损害。作者收集了已发表及未发表资料报导如下。资料主要包括155例母亲及524次妊娠。其中423个子女及101次自发性流产。除2个家
Phenylketoneuria (PKU) is an inborn metabolic disorder characterized by mental retardation and other brain damage. And PKU mothers without PKU children will also be harmed. Due to routine neonatal screening and early treatment of PKU, many PKU girls maintain their normal intelligence. The current controversy over the mother’s PKU lies primarily in the relationship between the extent of maternal PKU or hyperphenylalaninemia and the impact on the fetus. [The authors, in an attempt to raise the plasma phenylalanine (phe) concentration but <16 mg / dl and urine Phenylephrine in the high phenylalaninemia]. Followed by the treatment of pregnancy control mother biochemical abnormalities can prevent fetal damage. The authors collected published and unpublished data as follows. The data mainly include 155 mothers and 524 pregnancies. 423 children and 101 spontaneous abortions. In addition to 2 home