苯丙酮尿症(PKU)的妇女娩出的小儿出生缺陷包括小头畸形、智力迟钝、先天性心脏病和宫内发育迟缓,被称为孕母PKU综合征。在孕母给以低血苯丙氨酸的饮食治疗,特别在开始怀孕之前或妊娠4周之内,可减少畸形发生的危险,并可能导致正常或接近正常的后代,39例妊娠妇女参加研究。提供 Children born with phenylketonuria (PKU) have child birth defects including microcephaly, mental retardation, congenital heart disease and intrauterine growth retardation, known as gestational PKU syndrome. Treatment with hypo-phenylalanine diet in pregnant mothers, especially before beginning pregnancy or within 4 weeks of gestation, may reduce the risk of deformity and may result in normal or near normal offspring, with 39 pregnant women participating in the study . provide