TY - JOUR ID - 4151 TI - Epidemiology and clinical study of phenylketonuria (PKU) patients in Khorasan Province; Norteast Iran JO - Iranian Journal of Neonatology JA - IJN LA - en SN - 2251-7510 AU - Morovatdar, Negar AU - Badiee Aval, Shapour AU - Hosseini Yazdi, Seyed Mohammad Reza AU - Norouzi, Farzaneh AU - Mina, Tahereh AD - Health System Research Committee, Treatment Affaire of Vice Chancellor, Mashhad University of Medical Science , Mashhad , Iran AD - complementary medicine research center , Facaulty of traditional medicine, Mashhad university of Medical Sciences, Mashhad , Iran AD - Special Disease center, Treatment Affaire of Vice Chancellor , Mashhad University of Medical Science , Mashhad , Iran AD - Department of Information Technology, Treatment Affaire of Vice Chancellor , Mashhad University of Medical Science , Mashhad , Iran AD - Clinical Psychologist , Special Disease center, Treatment Affaire of Vice Chancellor, Mashhad University of Medical Science , Mashhad , Iran Y1 - 2015 PY - 2015 VL - 6 IS - 1 SP - 18 EP - 22 KW - Phenylketonuria KW - Epidemiology KW - Clinical KW - Khorasan DO - 10.22038/ijn.2015.4151 N2 - 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. UR - https://ijn.mums.ac.ir/article_4151.html L1 - https://ijn.mums.ac.ir/article_4151_7f5610e1314894e813da5e37cda9f98b.pdf ER -