Phenylketonuria (PKU) is an autosomal recessive disease. Early diagnosis could act as an effectual public health intervention in order to prevent neurological impairments. This study aimed to describe the characteristics of PKU patients in the region of Khorasan located in the Northeast of Iran. Methods: In total,  patients were known to be suffering from PKU in Khorasan until September 2013 who were all included in this study. Variables such as the diagnosis age, sibs and parents, cause of

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... ferring to the physician and screening or clinical diagnosis were investigated. Descriptive statistics were used for data analysis. Results: The mean age of diagnosis in the studied subjects was 19 months. Moreover, 80% of the PKU patients had a positive history of consanguineous marriages in their parents. The incidence of new cases identified via screening in 2012-2013 was 57 per 1,000,000 live births. Furthermore, 10% of the patients were identified via screening within the first week of birth. Conclusion: Nearly all of our patients (90%) had been diagnosed only by the clinical manifestations in the first year of their life without screening within the first days of birth. Regarding the efficacy of early diagnosis and dietary treatment, the enforcement of public health policy through screening is critical to public health preventive interventions.