DIET INTERVENTION AND CLINICAL OUTCOMES IN PHENYLKETONURIA

苯丙酮尿症的饮食干预和临床结果

• 批准号: 6115147
• 负责人: BOBBYE M ROUSE
• 金额: $ 3.42万
• 依托单位: UNIVERSITY OF TEXAS MED BR GALVESTON
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6115147
• 关键词: child (0-11); child physical development; clinical research; developmental nutrition; diet therapy; disease /disorder prevention /control; disease /disorder proneness /risk; female; gene mutation; genotype; human genetic material tag; human pregnant subject; human subject; human therapy evaluation; longitudinal human study; mother /embryo /fetus nutrition; mother /infant health care; nutrition related tag; phenylketonurias; pregnancy

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.

苯酮尿症（PKU）是一种通常通过新生儿筛查诊断的疾病。 患有PKU的人无法正确处理食品中发现的氨基酸（PHE）。 PKU的唯一已知治疗方法是由没有PHE的蛋白质来源组成的饮食，称为医疗食品（配方奶）加上有限的低蛋白质食品。 在被诊断出PKU以防止新生儿的智力低下后，饮食立即开始。过去，许多患有PKU的人在学龄前左右被脱离饮食。 他们中的一些人自己停止了饮食。 研究人员发现，饮食的孩子们开始失去智商点。 目前的建议是，所有患有PKU的人都保留一生中受到医疗食品和蛋白质限制的饮食。特别关注的是PKU对怀孕的影响。 患有PKU的妇女在怀孕之前和怀孕期间都没有饮食，以严重的出生缺陷分娩。 孕产妇PKU研究于1984年开始从PKU女性那里收集信息，以确定怀孕前后PHE限制饮食和医疗食品的影响。 该研究的目的是确定该女性拥有健康婴儿所需的适当血液PHE水平。该研究检查了妇女及其血液中的饮食摄入量以及血液中的其他营养素，例如铁和蛋白质。 在研究中，妇女出生的孩子在出生时和每年都有彻底的身体。 在1、2、4、7和10岁时对每个孩子进行发育测试。 将母亲的血液phe水平和怀孕之前和期间的饮食与孩子的成长和发育进行了比较。 从这些信息中，该研究旨在制定照顾PKU女性的诊所指南。 该项目对预防PKU女性出生的婴儿的出生缺陷具有重要意义。