DIET INTERVENTION AND CLINICAL OUTCOMES IN PHENYLKETONURIA

苯丙酮尿症（PKU）是一种通常通过新生儿筛查诊断的疾病。患有PKU的人不能正常处理食物中的一种氨基酸——苯丙氨酸（phe）。唯一已知的治疗PKU的方法是一种不含Phe的蛋白质来源的饮食，称为医疗食品（配方）加上少量的低蛋白质食物。在诊断出PKU后立即开始饮食，以防止新生儿智力迟钝。过去，许多患有PKU的人在上学年龄左右就停止了饮食。他们中的一些人自己停止了节食。研究人员发现，不节食的孩子智商开始下降。目前的建议是所有患有PKU的人在一生中都要保持医疗食品和蛋白质限制饮食。特别值得关注的是PKU对怀孕的影响。患有PKU的妇女在怀孕前和怀孕期间没有节食，她们生下的孩子有严重的先天缺陷。母体PKU研究于1984年开始收集PKU妇女的信息，以确定孕前和孕期限制高脂肪饮食和医疗食品的影响。这项研究的目的是确定女性有最好机会生下健康宝宝所需的适当血液phe水平。该研究检查了这些女性的饮食摄入量、血液中的phe水平以及血液中的其他营养物质，如铁和蛋白质。参与研究的女性所生的孩子在出生时和之后每年都要接受全面的体检。在每个孩子1岁、2岁、4岁、7岁和10岁时进行发育测试。母亲在怀孕前和怀孕期间的血液phe水平和饮食与孩子的生长发育进行了比较。根据这些信息，本研究旨在为诊所护理患有PKU的妇女制定指导方针。该项目对预防PKU妇女所生婴儿的出生缺陷具有重要意义。

Phenylketonuria (PKU) is a disorder usually diagnosed by newborn screening. Persons with PKU cannot properly process phyenylalanine (phe), an amino acid found in food. The only known treatment for PKU is a diet consisting of a protein source without Phe called a Medical Food (formula) plus limited amounts of low protein foods. The diet is started immediately after PKU is diagnosed to prevent mental retardation in newborns. In the past, many persons with PKU were taken off the diet around school age. Some of them stopped the diet on their own. Researchers found that the children off diet began losing IQ points. The current recommendation is for all persons with PKU to remain on the Medical Food and protein restricted diet throughout life. Of special concern is the effect of PKU on pregnancy. Women with PKU who were not on the diet before and during pregnancy delivered babies with serious birth defects. The Maternal PKU Study began collecting information from women with PKU in 1984 to determine the effects of the phe-restricted diet and Medical Food before and during pregnancy. The purpose of the study is to determine the proper blood phe levels needed for the woman to have the best chance of having a healthy baby. The study checks the dietary intake of the women and their blood phe levels and other nutrients in the blood such as, iron and protein. The children born to women in the study receive a thorough physical at birth and yearly thereafter. Developmental testing is done on each child at 1, 2, 4, 7 and 10 years of age. The mother's blood phe levels and diet before and during pregnancy are compared to the child's growth and development. From this information the study aims to develop guidelines for clinics caring for women with PKU. The project has significant implications for preventing birth defects in the babies born to women with PKU.