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

• Type of Material: Article
• Authors: Amy Cunningham, Tulane University; Fran Rohr, Met Ed Co, Boulder, CO USA; Patricia Splett, Splett & Associates; Shideh Mofidi, Maria Fareri Children’s Hospital/Westchester, New York Medical College; Heather Bausell, Ann and Robert H. Lurie Children’s Hospital of Chicago; Adrya Stembridge, Emory University; Aileen Kenneson, Emory University; Rani Singh, Emory University
• Language: English
• Date: 2023-06-22
• Publisher: BMC
• Publication Version: Final Published Version
• Copyright Statement: © The Author(s) 2023
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1186/s13023-023-02751-0
• Title of Journal or Parent Work: ORPHANET JOURNAL OF RARE DISEASES
• Volume: 18
• Issue: 1
• Start Page: 155
• End Page: 155
• Grant/Funding Information: This project was supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) as part of an award totaling $600,000 to Emory University for SERN with 0.25% financed with non-governmental sources (GMDI). The contents are those of the authors and do not necessarily represent the official views of, nor an endorsement, by HRSA, HHS, or the U.S. Government. For more information, please visit HRSA.gov. There was no support, sponsorship, or involvement from BioMarin, Inc. in development of the updated GMDI/SERN PKU Nutrition Management Guideline.
• Keywords: PHENYLKETONURIA; Pegvaliase; PKU; Nutrition guideline; Medicine, Research & Experimental; Phenylketonuria; Genetics & Heredity; ADULTS; Life Sciences & Biomedicine; Research & Experimental Medicine; Phenylalanine ammonia lyase; Science & Technology; Nutrition; Palynziq (R)
• Research Categories: Biology, Genetics; Health Sciences, Medicine and Surgery

Abstract

Background: The 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. Results: Recommendations, 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. Conclusions: Successful 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.