Normalizing Diet in Individuals with Phenylketonuria Treated with Pegvaliase: A Case Series and Patient Perspective

IF 1.3 Q4 NUTRITION & DIETETICS

Nutrition and Dietary Supplements Pub Date : 2021-12-01 DOI:10.2147/nds.s337135

L. Bernstein, J. Hansen, Christian Kogelmann, M. Ellerbrok, M. Giżewska, Sommer Gaughan, J. C. Rocha, A. Bélanger-Quintana, F. Rohr

{"title":"Normalizing Diet in Individuals with Phenylketonuria Treated with Pegvaliase: A Case Series and Patient Perspective","authors":"L. Bernstein, J. Hansen, Christian Kogelmann, M. Ellerbrok, M. Giżewska, Sommer Gaughan, J. C. Rocha, A. Bélanger-Quintana, F. Rohr","doi":"10.2147/nds.s337135","DOIUrl":null,"url":null,"abstract":": Phenylketonuria (PKU) is one of the most common inherited metabolic disorders, and historically has required affected individuals to follow a severely protein-restricted diet with medical food for life. A novel enzyme substitution therapy, pegvaliase, allows many adults with PKU on therapy to have a reduction in blood phenylalanine (Phe) while on an unrestricted diet. However, there is limited information on optimal nutrition management of individuals with PKU on pegvaliase therapy. This manuscript summarizes a virtual European meeting focused on nutrition management of individuals on pegvaliase therapy, including three case studies and a patient perspective that together provide clinical insights into the real-world management of individuals with PKU on pegvaliase. described the freedom to eat an unrestricted diet as ‘life altering’ for not only her, but for her family, and reported an improvement in her quality of life. No formal assessment of quality of life was conducted.","PeriodicalId":43423,"journal":{"name":"Nutrition and Dietary Supplements","volume":" ","pages":""},"PeriodicalIF":1.3000,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nutrition and Dietary Supplements","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2147/nds.s337135","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"NUTRITION & DIETETICS","Score":null,"Total":0}

引用次数: 1

Abstract

: Phenylketonuria (PKU) is one of the most common inherited metabolic disorders, and historically has required affected individuals to follow a severely protein-restricted diet with medical food for life. A novel enzyme substitution therapy, pegvaliase, allows many adults with PKU on therapy to have a reduction in blood phenylalanine (Phe) while on an unrestricted diet. However, there is limited information on optimal nutrition management of individuals with PKU on pegvaliase therapy. This manuscript summarizes a virtual European meeting focused on nutrition management of individuals on pegvaliase therapy, including three case studies and a patient perspective that together provide clinical insights into the real-world management of individuals with PKU on pegvaliase. described the freedom to eat an unrestricted diet as ‘life altering’ for not only her, but for her family, and reported an improvement in her quality of life. No formal assessment of quality of life was conducted.

查看原文本刊更多论文

用Pegvaliase治疗苯丙酮尿患者饮食正常化:一个病例系列和患者观点

苯丙酮尿症(PKU)是最常见的遗传性代谢疾病之一，历史上要求患者终生严格限制蛋白质饮食和医疗食品。一种新的酶替代疗法，pegvaliase，允许许多患有PKU的成年人在不受限制的饮食中减少血液中的苯丙氨酸(Phe)。然而，关于PKU患者在pegvaliase治疗下的最佳营养管理的信息有限。这篇手稿总结了一个虚拟的欧洲会议，重点是对pegvaliase治疗的个人的营养管理，包括三个案例研究和患者的观点，共同提供临床见解到对pegvaliase治疗的PKU个人的现实世界管理。她说，不受限制的饮食自由不仅改变了她的生活，也改变了她的家庭，并报告说她的生活质量得到了改善。没有进行生活质量的正式评估。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Nutrition and Dietary Supplements NUTRITION & DIETETICS-

自引率

0.00%

发文量

审稿时长

16 weeks

期刊介绍： Nutrition and Dietary Supplements is an international, peer-reviewed, open access journal focusing on research into nutritional requirements in health and disease, impact on metabolism and the identification and optimal use of dietary strategies and supplements necessary for normal growth and development. Specific topics covered in the journal include: Epidemiology, prevalence of related disorders such as obesity, diabetes, dyslipidemias Biochemistry and cellular metabolism of nutrients Effect of nutrition on metabolic control Impact of hormones and genetics on nutrient handling Identification of cofactors and development of effective supplementation strategies Dietary strategies Behavior modification Consumer and patient adherence, quality of life Public Health Policy & Health Economics.