Background: Phenylketonuria is an autosomal recessive disorder characterized by
accumulation of phenylalanine in blood and body fluids that is caused by defective Phe
hydroxylase activity. Aim of the present study is to assess lifestyle for children with
phenylketonuria. Design: A descriptive design was used in this study. Setting: conducted at
genetic counseling clinic in basic health care unit at El Fayoum affiliated to Ministry of
Health (MOH). Sample: A purposive sample included all children with Phenylketonuria
composed of 79 children accompanied by their mothers. Tools: structural interviewing
questionnaire to assess demographic characteristics, and medical history, and lifestyle
assessment Questionnaire for children with PKU to identify current strengths of child's
health, and risk factors. Results: (74.7%) of families were discovered the disease by
Ministry of Health screening programs. (92.4%) of children were made regular follow up.
(78.5%) of children had follow up visits once monthly. 89.9% of children were not Taking
breast feeding 62% of mothers had inadequate knowledge about the relation between breast
feeding and the disease process. Conclusion: There is a statistically significant correlation
between compliance with the prescribed diet and growth problems. There is no statistically
significant correlation between compliance with the prescribed diet and sleep problems.
Recommendations: The current study recommended Periodic assessment of Children
affected commitment to prescribed diet. Increase mother knowledge about the importance of
prescribed diet for children with Phenylketonuria