Change in quality of life 6 months after the implementation of sapropterin therapy. A mixed methods study
Phenylketonuria (PKU) is a rare Inborn Error of Metabolism (IEM) with an incidence of approximately 1 in 10 - 15,000. Early diagnosis via newborn screening and introduction of effective dietary interventions – specifically, adherence to a low-phenylalanaine diet – prevent severe neurological manifestations. Sapropterin therapy has recently been made available for use with children with PKU in Australia, enabling varying degrees of liberalisation of the low-phenylalanine diet to which children must adhere. This project will use a mixed-methods study design to assess the effects of sapropterin therapy on the impact of PKU on quality of life for children and their families.
Project members
Anita Inwood, Catherine Atthow, Alina Morawska, Amy Mitchell, Evren Etel