Background : Phenylketonuria (PKU) is a metabolic disease with autosomal recessive pattern of inheritance caused by a deficiency or absence of the enzyme phenylalanine hydroxylase in the liver. Phenylketonuria incidence is 1 in 10,000 births. This study aimed to determine the epidemiological characteristics of phenylketonuria in Lorestan province.
Materials and Methods: All 81 phenylketonuria patients known in Lorestan province up to winter 2014 were considered in this descriptive epidemiologic study. Based on the goals and variables of the study, a complete questionnaire was developed to collect data through interviews with parents and the records and they were analyzed by use of SPSS v.16 software with preparing tables and graphs and using chi-square and t-test.
Results: Results showed that phenylketonuria prevalence is 4.3 out of 100,000 people in Lorestan province. Twenty of the patients (24.7%) were identified through screening and 61 patients (75.3%) through other methods. Forty-six of the samples (56.8%) were female and 35 cases (43.2%) were male. Nearly 75% of PKU patients had a positive history of consanguinity marriage in their parents. The prevalence of the disease was significantly different from other cities.
Conclusion: Neonatal screening for phenylketonuria is necessary and should be done within 3-5 days of birth. In families with children suffering from PKU, prenatal diagnosis is necessary for other pregnancies.