epidemiology and clinical study of phenylketonuria (pku) patients in khorasan province; norteast iran

epidemiology and clinical study of phenylketonuria (pku) patients in khorasan province; norteast iran background: phenylketonuria is an autosomal recessive disease. early diagnosis is a important public health intervention to prevent neurological impairment .this study was designed to describe characteristics of phenylketonouria patients in khorasan ,northeast of iran. methods: we included all  patients suffering from pku in khorasan until september 2013. we gathered the variables like diagnosis age , sib of parents, cause of asking physician and screening based diagnosis or clinical based diagnosis. we use descriptive statistics for analysis. results: the mean age of diagnosis was 19 months .80% pku patients had a positive history of consanguineous marriage in their parents. incidence of new cases that identified by screening in 2012-2013 was 57 per 1000000 live birth. 10% patients identified with screening in first week of birth. conclusion: nearly all of our patients (90%) had been diagnosed without screening in the first days of their life only due to clinical manifestations in the first year of their life . according to efficacy of early diagnosis and dietary treatment, enforcement of public health policy for screening is a critical public health preventive intervention.