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.