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的人不能正确处理苯丙氨酸(Phe)，这是一种存在于食物中的氨基酸。唯一已知的治疗PKU的方法是一种饮食，包括一种不含苯丙氨酸的蛋白质来源，称为医用食品(配方)，外加有限数量的低蛋白食品。在诊断为PKU后立即开始饮食，以防止新生儿智力低下。过去，许多北大患者在上学年龄前后被取消节食。他们中的一些人自己停止了节食。研究人员发现，不节食的儿童智商开始下降。目前的建议是，北京大学的所有患者在一生中都应保持医疗食品和蛋白质的限制饮食。特别值得关注的是北京大学对怀孕的影响。北大的妇女在怀孕前和怀孕期间没有节食，生下的孩子有严重的出生缺陷。北京大学母亲研究从1984年开始收集患有北京大学的妇女的信息，以确定怀孕前和怀孕期间限制Phe的饮食和医疗食品的影响。这项研究的目的是确定妇女生下健康婴儿的最大机会所需的适当血液Phe水平。这项研究检查了这些女性的饮食摄入量和她们的血液Phe水平以及血液中的其他营养素，如铁和蛋白质。研究中女性所生的孩子在出生时和出生后每年都会接受全面的体检。发育测试在每个儿童1岁、2岁、4岁、7岁和10岁时进行。母亲在怀孕前和怀孕期间的血液苯丙氨酸水平和饮食与孩子的生长发育进行比较。根据这些信息，这项研究旨在为护理北大妇女的诊所制定指导方针。该项目对预防北京大学患者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.