Health-related quality of life in a european sample of adults with early-treated classical PKU.

ABSTRACT:

Background

Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepant. Moreover, little is known about metabolic, demographic, and cognitive factors associated with HRQoL. Hence, we aimed to investigate HRQoL and its association with demographic, metabolic, and cognitive characteristics in a large European sample of adults with early-treated classical PKU.

Results

This cross-sectional study included 124 adults with early-treated classical PKU from Hungary, Italy, Spain, Switzerland, and Turkey. All participants prospectively completed the PKU quality of life questionnaire (PKU-QoL), a questionnaire speci

SUBMITTER: Maissen-Abgottspon S 

PROVIDER: S-EPMC10517574 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature