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