Quality of life in Jordanian adolescents living with PKU, a single-center, cross-sectional, observational study

Background

Phenylketonuria (PKU) is an autosomal recessive condition caused by a deficiency of the phenylalanine hydroxylase enzyme, leading to severe cognitive and physical impairments if untreated. Early diagnosis through newborn screening and adherence to a strict diet can mitigate symptoms, but challenges remain for patients and families, including emotional and financial burdens. The study aims to assess the health-related quality of life of Jordanian adolescents with PKU.

Methodology

A cross-sectional study conducted in October 2024 at the sole PKU clinic in Jordan examined adolescents aged 12 to 18 with varying degrees of PKU severity. Non-Jordanian patients receiving care at the center were excluded, as were those whose parents reported an inability to comprehend the study instrument. Among 54 identified adolescents, 32 met the eligibility criteria. The study utilized the Arabic version of the PKU-QoL questionnaire to evaluate health-related quality of life, concentrating on four domains (social, emotional, practical and overall).

Results

A total of 32 adolescents diagnosed with PKU participated in the study. The most frequently reported symptoms were slow thinking and lack of concentration. The emotional domain was the most affected (Mean = 52.81 ± 20.32), whereas the social domain was the least affected (Mean = 26.04 ± 17.16).

Conclusion

Adolescents with PKU maintain a good health-related quality of life despite facing emotional challenges, indicating a need for emotional support. Although improvements have been made through screening programs and dietary resources, financial challenges remain, highlighting the necessity for specialized treatment centers and affordable low-protein foods.