Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations

Orphanet Journal of Rare Diseases

Research

Heather Bausell¹  Adrya Stembridge²  Aileen Kenneson²  Rani H. Singh²  Amy Cunningham³  Shideh Mofidi⁴  Fran Rohr⁵  Patricia Splett⁶ 

[1] Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA;Department of Human Genetics, Emory University, Atlanta, GA, USA;Hayward Genetics Center, Tulane University School of Medicine, 1430 Tulane Ave SL-31, New Orleans, LA, USA;Maria Fareri Children’s Hospital/Westchester, New York Medical College, Hawthorne, NY, USA;Met Ed Co, Boulder, CO, USA;Splett and Associates, Stanchfield, MN, USA;

关键词: Phenylketonuria;    PKU;    Phenylalanine ammonia lyase;    Pegvaliase;    Palynziq®;    Nutrition guideline;    Nutrition;   

DOI  :  10.1186/s13023-023-02751-0

 received in 2023-03-06, accepted in 2023-05-18,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundThe web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval of pegvaliase pharmacotherapy, offers guidance for nutrition management of individuals with phenylketonuria (PKU) treated with dietary therapy and/or sapropterin. An update of this guideline aims to provide recommendations that improve clinical outcomes and promote consistency and best practice in the nutrition management of individuals with PKU receiving pegvaliase therapy. Methodology includes: formulation of a research question; review, critical appraisal, and abstraction of peer-reviewed studies and unpublished practice literature; expert input through Delphi surveys and a Nominal Group process; and external review by metabolic experts.ResultsRecommendations, summary statements, and strength of evidence are included for each of the following topics: (1) initiating a pegvaliase response trial, (2) monitoring therapy response and nutritional status, (3) managing pegvaliase treatment after response to therapy, (4) education and support for optimal nutrition with pegvaliase therapy, and (5) pegvaliase therapy during pregnancy, lactation, and adolescence. Findings, supported by evidence and consensus, provide guidance for nutrition management of individuals receiving pegvaliase therapy for PKU. Recommendations focus on nutrition management by clinicians, as well as the challenges for individuals with PKU as a result of therapy changes.ConclusionsSuccessful pegvaliase therapy allows the possibility for individuals with PKU to consume an unrestricted diet while still maintaining the benefits of blood phenylalanine control. This necessitates a perspective change in education and support provided to individuals in order to achieve healthy nutrient intake that supports optimal nutritional status. The updated guideline, and companion Toolkit for practical implementation of recommendations, is web-based, allowing for utilization by health care providers, researchers, and collaborators who advocate and care for individuals with PKU. These guidelines are meant to be followed always taking into account the provider’s clinical judgement and considering the individual’s specific circumstances. Open access is available at the Genetic Metabolic Dietitians International (https://GMDI.org) and Southeast Regional Genetics Network (https://managementguidelines.net) websites.

【 授权许可】

CC BY   
© The Author(s) 2023