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 

Associate Professor Alina Morawska

Director of Parenting and Family Support Centre and Associate Professor in Family Psychology and Parenting
School of Psychology

Dr Amy Mitchell

Senior Lecturer in Nursing
School of Nursing, Midwifery and Social Work