Quality of life of children with Phenylketonuria at primary health care center in Cairo Egypt: an exploratory cross-sectional study

ABSTRACT Phenylketonuria (PKU) represents a common inborn error of metabolism. PKU management is complicated and bothersome; multiple challenges may represent strains on the Quality Of Life (QOL) of both children and their parents. We aimed to assess QOL among PKU children and to identify diversified factors affecting their parents’ QOL. An exploratory cross-sectional study was conducted among a calculated random sample of 120 PKU children attending a primary health care center in Cairo. A structured interview questionnaire included the QOL assessment tool ‘PedsQL questionnaire’ while the impact of the dietary plan on the family’s daily life was inquired upon utilizing the ‘PKU-QOL questionnaire’. Our results revealed a positive history of similar cases (PKU) in the family reported by 35 cases (29.1%). QOL was very high in children under 5 years and tended to decrease afterward. Children aged five years or more had low scores in all QOL domains. Dietary management of PKU represented a financial burden on nearly two-thirds of families. Parents of PKU children face difficulties in the management of dietary protein restriction; this includes (feeling sad about dietary restriction, worrying that the child might secretly eat forbidden food, and calculating the allowed protein in their children’s diet) and they also suffer from the daily expenses of PKU diet.