Phenylketoneuria is an autosomal recessive disorder and cause irreversible brain
damage if untreated. Aim: This study aimed to assess mothers care for children having
Phenylketoneuria through assessing the mothers' knowledge, self-reported practice and
coping patterns toward their children with PKU. Design: A descriptive study. Sampling: A
purposive sample comprised of 94 mothers accompying children with PKU. Setting: This
study was conducted at Specialized Genetic Outpatient Clinic, Children's Hospital affiliated
to Ain Shams University Hospital. Data collection tool: 1st tool: Interviewing Questionnaire
Format to assess socio- demographic data of the study children and their mothers, medical
history of children with PKU, mothers' knowledge about PKU, assessment of children'
health needs and problems, 2 nd tool: Mothers Reported Practice Format related to care of
their children with PKU, as diet management and follow up for growth and development as
weight, height. 3 rd tool: Psychometric Assessment for mothers as Coping Pattern Scale, Beck
Depression Inventory and State-Trait Anxiety Inventory. Results: This study revealed that
above half of studied children's were females, it ranged from birth to more than 9 years with
a mean age of 4.45 ± 2.07 years, the mean age of studied mothers was (32.26 ± 4.2 years),
Conclusion: about more than half of mothers had poor knowledge about PKU. As well more
than one tenth of the mothers had poor total reported practice. There is a significant
correlation between mothers' knowledge, practice and their caring roles, anxiety and
depression. Recommendation: Continuous health teaching to children and their caregivers
regarding PKU.