Quality of life in children living with PKU - a single-center, cross-sectional, observational study from Hungary.

ABSTRACT:

Background

Phenylketonuria (PKU) is an inherited error of metabolism, screened at 48-72 h of life since 1975 in Hungary. The patients have to keep a strict lifelong protein-restricted diet, resulting in PKU and its treatment can lead to social and financial burdens. The current study aimed to evaluate the health-related quality of life (HRQoL) of children living with PKU.

Patients and methods

A single-centre, cross-sectional, observational study was conducted at the Center of Newborn Screening and Inherited Metabolic Disorders of Budapest, Hungary, using the PKU-quality of life (PKU-QoL) questionnaire. Responses of 59 parents and 11 teenagers were collected. Numerous aspects regarding HRQoL were analysed according to clinical compliance and severity. The patients were classi

SUBMITTER: Becsei D 

PROVIDER: S-EPMC8639791 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature