苯丙酮尿症(PKU)是一种常见的氨基酸代谢疾病,是常染色体隐性遗传病,发生率1/万左右[1]。苯丙酮尿症孕妇的高苯丙氨酸血浓度对后代产生不良影响,导致流产、胎儿智力缺陷、心脏畸形、小头畸形、癫痫发作等严重后果[2-4]。本文报道1例苯丙酮尿症患者前次胎儿畸形引产后经控制饮食再次孕育一健康活婴,并复习国内外相关文献,对苯丙酮尿症患者进行生育指导及干预措施进行相关讨论 Phenylketonuria (PKU) is a common disease of amino acid metabolism, is autosomal recessive disease, the incidence of 1 / 10,000 or so [1]. High levels of phenylalanine in pregnant women with phenylketonuria have an adverse effect on offspring, leading to miscarriage, fetal mental retardation, cardiac malformations, microcephaly, and seizures [2-4]. This paper reports a case of phenylketonuria in patients with fetal malformations after induced labor once again conceived by a healthy diet of healthy infants, and review of relevant literature at home and abroad, for phenylpropanoneurine in childbirth guidance and interventions related to the discussion