1 Department of Health Services, Lorestan University of Medical Sciences, Khorramabad, Iran.

2 Social Development and Health Promotion Research Center, Gonabad University of Medical Sciences, Gonabad, Iran.

3 Instructor, MSc in Epidemiology, Department of Public Health, School of Health, Semnan University of Medical Sciences, Semnan, Iran.

4 MSc, Student of Epidemiology, Student Research Committee, Urmia University of Medical Sciences, Urmia, Iran.

5 Pars Advanced and Minimaly Invasive Manners Research Center, Pars Hospital, Tehran, Iran.

6 MSc and MPH, Department of Health and Community Medicine, Faculty of Medicine, Dezful University of Medical Sciences, Dezful, Iran.

7 MSc of Epidemiology, Faculty Member of Shoushtar, Faculty of Medical Sciences, Shoushtar, Iran.

8 Department of Public Health, Behbahan Faculty of Medical Sciences, Behbahan, Iran.

9 Director of the Department Diseases County of Boroujerd, and Legal of Medical School, Boroujerd, Iran.

10 Social Determinants of Health Research Center, Kurdistan University of Medical Sciences, Sanandaj, Iran.


Background: Phenylketonuria (PKU), is one of the most common metabolic diseases that resulted in mental retardation. The study aimed to investigate the incidence of phenylketonuria in Lorestan province, Iran.
Materials and Methods: The study was an observational-descriptive study which included all identified cases of patients from April 2006 to February 2016. The required data were collected from patients' records. The Entered variables in data survey checklist included gender, date of birth, County Residence, parental education, parental occupation, parental kinship, conducting genetic consultation and screening. Recorded data were analyzed in Stata-12 software after completion.
Results: Newborns were identified with Phenylketonuria during the years 2006 to 2016 and incidence rate calculated 1.91 per 10,000 live births. The highest incidence rate of disease was 3.86 per 10,000 live births in 2014. Delfan (Nurabad) County and Borujer County had maximum and minimum rate of incidence with 5.94 per 10,000 and 0.64 per 10,000, respectively. Among 74 patients, 42 (56%), were female and there was patients' parental kinship in 82% of parents that about 92 percent of suffering children parents had done genetic consultation.
Conclusion: The incidence of phenylketonuria in the Lorestan province is more than other provinces. Given that most cases of patients resulted from cousin marriages, paying attention to the screening tests prior to marriage, particularly in familiar marriage is essential.