EFFECTS OF MATERNAL PHENYLKETONURIA ON PREGNANCY OUTCOME

母体苯丙酮尿症（PKU）是PKU中尚未解决的主要问题，在全世界许多后代中有可能导致小头畸形、智力迟钝、先天性心脏病、畸形相和低出生体重。怀孕期间苯丙氨酸限制饮食疗法可能提供一定程度的胎儿保护，但这种保护的程度和条件尚不清楚。1984年，为了解决这些问题，北京大学开展了母婴合作研究。本研究的目的是确定：1)苯丙氨酸限制饮食是否降低了高苯丙氨酸（HPA）母亲在怀孕期间无限制摄入苯丙氨酸的怀孕中报告的智力低下、自然流产、低出生体重、先天性畸形、神经和行为障碍的频率？2)妊娠期间限制苯丙氨酸摄入的HPA妇女的妊娠结局与非HPA妇女的妊娠结局是否相似？3)妊娠期母体苯丙氨酸水平与HPA妇女妊娠结局有关吗？4)干预开始时的胎龄能否预测胎儿结局？5)怀孕前开始节食是否有有益的效果？6)怀孕期间酪氨酸和微量元素的水平是多少？如果发现水平降低，补充酪氨酸和微量元素对妊娠结局有什么影响？

Maternal phenylketonuria (PKU) is a major unresolved problem in PKU, threatening to produce microcephaly, mental retardation, congenital heart disease, dysmorphic facies, and low birth weight in many offspring throughout the world. Phenylalanine restricted dietary therapy during pregnancy may offer some degree of fetal protection, but the extent of and conditions for this protection are not yet known. The Maternal PKU Collaborative Study was developed in 1984 to address these questions. The objectives of this study are to determine: 1) Does the phenylalanine restricted diet reduce the frequency of mental retardation, spontaneous abortion, low birth weight, congenital malformations, neurological and behavioral impairment reported in pregnancies of hyperphenylalanine (HPA) mothers who were on unrestricted phenylalanine intake during pregnancy? 2) Is pregnancy outcome in HPA women who restrict phenylalanine intake during pregnancy comparable to that of non-HPA women? 3) Is pregnancy outcome in HPA women related to maternal phenylalanine levels during pregnancy. 4) Is gestational age at the onset of intervention predictive of fetal outcome? 5) Are there beneficial effects of starting diet prior to conception? 6) What are the levels of tyrosine and trace elements during pregnancy and what are the effects on pregnancy outcome of supplementation if levels are found to be reduced? NCRR Clarification: research is on miscarriage