Characteristics of patients with phenylketonuria in Mazandaran Province, northern, Iran

Background: Phenylketonuria (PKU) is an autosomal recessive disease of Phenylalanine metabolism that brings deficiency of the enzyme Phenylalanine Hydroxylase (PAH). Early diagnosis is very important to prevent complications. This study was designed to describe characteristics of patients with phenylketonuria in Mazandaran Province in northern Iran. Methods: We studied 24 cases suffering from PKU in Mazandaran. We analyzed the variables like diagnosis age, current age of the patients, history of previous child (/or children) with PKU, sib of parents and level of education of patients.Results: The mean age of diagnosis was 20 months and most of the patients were diagnosed in the first year of their life. The mean current age is 90 months. Seventy percent of them were male. Ten percent had a history of PKU in previous child/children. Sixty percent of the patients had blood relationship.Conclusion: There is no doubt of the efficacy of the early diagnosis of PKU with newborn screening, followed by dietary treatment in most patients. All of our patients had been diagnosed without screening only due to clinical symptoms.