Evaluation of patients with phenylketonuria before and after screening in Qazvin Province, Iran

BACKGROUND: Phenylketonuria (PKU) is a hereditary metabolic disorder and is inherited as autosomal recessive, so it is more likely to occur in consanguineous marriages. Early diagnosis is made by screening and timely treatment can prevent brain damage. METHODS: This was a descriptive study including all children identified with PKU in Qazvin Province, Iran, up to march 2017. The required information was obtained through interviews with parents and reviewing of cases. Data were analyzed using SPSS software. RESULTS: Of the 63 infected patients, 55.5% were residents of Qazvin City and the rest were residents of other cities in the province. Parents of 54.0% of the patients were related. 20.6% of patients had at least one patient with PKU in their family. The mean age that patients were diagnosed before screening was 34 months, and the statistical difference between the two groups was significant (P < 0.001). 52.4% of the patients were girls. The most common reason of referring of the patients before screening was a developmental delay. The prevalence of hyperactivity, seizures, and delay in walking and language were significantly different between the two groups (P <0.001). CONCLUSION: Early diagnosis and treatment of children with inherited metabolic diseases can prevent brain damage and retardation in them and reduce the financial and psychological burden of treating these children by maintaining their intelligence quotient (IQ).