Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

Living With Pku: The Lived Experience Of Irish Adults With Early Diagnosed Phenylketonuria On Long Term Dietary Therapy, Mary-Ellen O'Shea

Theses

Phenylketonuria (PKU) is a rare genetic condition affecting the body’s ability to metabolise the amino acid phenylalanine (PHE). A build-up of PHE in the blood and brain can result in irreversible intellectual disability and developmental delays. Ireland has one of the highest prevalence rates of PKU in Europe and some of the earliest treated patients with PKU in the world. However, little is known about their lived experience with PKU. Furthermore, cost-benefit analysis of treatments for rare diseases in Ireland is principally based on quantitative data. More qualitative data is needed to highlight the quality of life experienced by people …