DMIMD 2023 - The Introduction of BH4 Therapy in the Irish Paediatric PKU Cohort – Our Three-Year Experience

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.

Timestamps

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