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

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.