其他摘要：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.
