Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Community Medicine

Background: Phenylketonuria (PKU) is an inborn error in amino acid metabolism. It is characterized by an impaired ability to metabolize amino acid phenylalanine (Phe). The management of PKU is complex and burdensome; multiple challenges may represent strains on Quality Of Life (QOL) of both patients and their families. Aim: Improve quality of life among children suffering from PKU with the following objectives: to assess QOL among children with PKU and to study the factors which may affect QoL in these children. Methods: An exploratory cross sectional study was conducted among 120 PKU children attending Rod El Farag primary health care center in Cairo, Egypt. A structured interview questionnaire was designed to collect data from the guardians regarding socio-demographic and economic data, medical history, and nutritional assessment through semi-quantitative food frequency questionnaires, QOL assessment by PedsQL and impact of diet plan on family daily life by PKU-QOL questionnaires. Anthropometric measurements (weight and height) were obtained, z scores were calculated and nutritional status categorized according to WHO classification (2007). Results: The study showed the median age of the patients to be 3.2(1.8) years. A positive history of similar cases (PKU) in family was reported by 35 cases (29.1%). Stunting was of higher prevalence in the older age group. QoL was very high in children {u02C2} 5years and tended to decrease after words. Psychosocial domain in the < 2 year age group (74.3±6.2) and social domain in the 2-<5 year age group (87.3±11.5) were the least scores. Children aged {u2265} 5 years had low scores of all QOL domains. Dietary management of PKU represented a financial burden on most of families

Issued also as CD