Publications by authors named "Kamilla Mueller Gabe"
Orphanet J Rare Dis
October 2024
Article Synopsis
- - Phenylketonuria (PKU) is a genetic disorder caused by the inability to metabolize phenylalanine, leading to neurotoxicity; its treatment requires a strict diet to ensure proper development in affected children.
- - A scoping review analyzed existing research about the quality of life (QoL) of PKU patients and their caregivers, finding significant negative impacts in most studies, particularly among pediatric patients and their caregivers.
- - Factors such as high blood phenylalanine levels, caregiver stress, and mental health issues correlated with poorer QoL, while social and emotional support acted as beneficial factors for caregivers.
