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Aim of work: The aim of this study is to explore epidemiological and clinical situation of phenylketonuria among children in Fayoum governorate and to assess the current state of PKU screening and management. Patients and Methods: This study was conducted with 2 approaches; a retrospective approach related to the recorded data of phenylketonuria cases on Fayoum governorate and a cross sectional approach to complete history taking and examination of the cases. Results: From 9/2015 to 9/2017, 229547 newborns in Fayoum were screened for PKU with screening coverage rate of 98.8%. Out of 61 mothers of the 71 PKU cases, 49/61 (80.3%) reported consanguineous marriage,19/22 (86.5 %) of them showed appearance of PKU (fair complection of skin, hair and iris), As regards neurological examination, 13/65 (20.0 %) had delayed speech. Conclusion and recommendations: Incidence of PKU among screened neonate in Fayoum governorate was high which implicates the importance of NBS program for early detection of PKU cases before appearance of manifestations. Consanguinous marriage was found in most cases of PKU. Health education specially for those living in rural area as regard the role of consanguineous marriage and family history as a risk factor of PKU is an important issue.

Pediatric Phenylketonuria in Fayoum Governorate (Retrospective study)