Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening

Abstract

ABSTRACTThe understanding of phenylketonuria (PKU), guidelines, and treatment landscape have evolved dramatically over the decades since newborn screen implementation. We capture this rich history from the stories and experiences of a multidisciplinary provider team from Boston Children's Hospital's PKU Clinic, who treated PKU from the early years of newborn screening and who worked together for over 40 years.