摘要
母源性苯丙酮尿症是由于苯丙酮尿症孕妇在孕前及孕中苯丙氨酸水平持续升高导致的综合征，其表现为小头及面部畸形、先天性心脏病、智力低下和行为及情感异常。合理控制苯丙酮尿症孕妇血苯丙氨酸水平并保持在120—360μmol／L，能够降低和避免胎儿畸形不良结局的发生。母源性苯丙酮尿症应倡导三级干预。
Maternal phenylketonuria（MPKU） is a syndrome caused by high phenylalanine concentrations in serum of pregnant women with phenylketonuria. MPKU results in neonatal microcephaly, facial dysmorphism, congenital heart defects, mental retardation, intrauterine growth restriction, behavior and emo-tional problems. To control serum Phe level of pregnant phenylketonuria women and maintain Phe concentration between 120 to 360 μmol/L will prevent offspring poor outcomes such as intellectual disabilities and microcephaly. Three level interventions are best ways in MPKU management.
出处
《中国小儿急救医学》
CAS
2016年第5期300-303,共4页
Chinese Pediatric Emergency Medicine
基金
国家科技支撑计划项目（2013BAI12B01）
关键词
母源性苯丙酮尿症
苯丙氨酸
畸形
Maternal Hyperphenylalaninemia
Phenylalanine
Dysmorphism
