Background & aims: Phenylketonuria (PKU) has a very high prevalence throughout the world. Nowadays, number of studies about impact of this metabolic disease on patients increasing. The aim of our study is to examine PKU patients' quality of life according to PKU-QOL questionnaires.
Methods: Patients (n = 63) diagnosed with PKU were included this study; child (9-11 years (n = 20)), adolescent (12-15 years (n = 22)) and adult (18-35 years (n = 21)). PKU-QOL questionnaires (include 4 modules) developed for PKU patients were used. In accordance with purpose, data were analysed by nonparametric tests (Kruskal Wallis One-Way Analysis of Variance Test and Mann-Whitney U Test), according to results of normality tests.
Results: Most of the individuals were female (65,1%) and mean age was 15,7 ± 6,4 years. Symptoms; there were statistically significant differences in all domains excluding tiredness. Especially, median score of slow thinking was very frequent symptom in children as 100,0. PKU in general; there were found that median scores were higher in children. Phe-free amino acid supplement administration: as the age increased, scores were lower. Dietary protein restriction: Overall difficulty following dietary protein restriction and Food enjoyment were found similar in groups (p > 0,05).
Conclusions: It was concluded that PKU affects younger people more negatively.
Keywords: Metabolic disorders; Nutrition; Phenylketonuria; Quality of life.
Copyright © 2018 European Society for Clinical Nutrition and Metabolism. Published by Elsevier Ltd. All rights reserved.