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。 苯丙酮尿症患者不能正确处理食物中的一种氨基酸苯丙氨酸（phe）。 唯一已知的PKU治疗方法是由不含Phe的蛋白质来源组成的饮食，称为医疗食品（配方）加上有限量的低蛋白质食物。 诊断出苯丙酮尿症后立即开始饮食，以防止新生儿智力低下。在过去，许多PKU患者在学龄前后被取消饮食。 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PKU患者终生保持医疗食品和蛋白质限制饮食。特别值得关注的是PKU对妊娠的影响。 患有苯丙酮尿症的妇女在怀孕前和怀孕期间没有节食，分娩的婴儿有严重的出生缺陷。 母亲PKU研究于1984年开始收集PKU妇女的信息，以确定在怀孕前和怀孕期间限制PHE饮食和医疗食品的影响。 这项研究的目的是确定妇女拥有健康婴儿的最佳机会所需的适当血液phe水平。这项研究检查了这些妇女的饮食摄入量和她们血液中的苯丙氨酸水平以及血液中的其他营养物质，如铁和蛋白质。 研究中的妇女所生的孩子在出生时和之后每年都接受全面的体检。 每个孩子在1岁、2岁、4岁、7岁和10岁时都要进行发育测试。 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比较。 根据这些信息，该研究旨在为PKU妇女的诊所制定指导方针。 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.