In this presentation from the Nutricia’s Dietary Management of Inherited Metabolic Disorders (DMIMD) 2023, Jenny McNulty, Clinical Specialist Dietitian and Maria Irranca, Senior Dietitian discuss their three years experience of introducing Sapropterin Therapy in the Irish paediatric Phenylketonuria (PKU) cohort. The presentation begins with a history of PKU in Ireland before providing an overview of Sapropterin Therapy. Following this, neonatal testing and their protocol for existing patients is discussed. The presentation then concludes with a case study.
00:00 - Introduction
00:40 - History of PKU in Ireland
02:42 - Sapropterin
06:10 - Neonatal Testing
11:12 - Protocol for Existing Patients
14:07 - Response
20:53 - Case Study