ژنتیک فنیل کتونوری در ایران: مرور مطالعات گذشته

ژنتیک فنیل‌کتونوری در ایران: مرور مطالعات گذشته

Background and purpose: Phenylketonuria (PKU), a genetic disorder with an autosomal recessive pattern of inheritance, is mainly due to phenyalanine hydroxylase deficiency. In Iran, many studies have investigated the genetics of this disease among different populations. This study aimed to report the frequencies of the mutations for each population as determined in different studies. Material...

فنیل کتونوری

تشخیص فنیل کتونوری در هتروزیگزتها

آشنایی با فنیل کتونوری

Background: Phenylketonuria is an inherited metabolic disease. It is genetic disorder autosomal recessive type. It is caused by absent or deficiency Phenylalanine hydroxylase enzyme activity that converts Phenylalanine to Tyrosine. It leads to increasing Phenylalanine in the blood. Tyrosine is important for production of some neurotransmitters. So it caused deficiencies of dopamine and serotoni...

برنامه کشوری غربالگری فنیل کتونوری در ایران؛ چرایی و چگونگی

Background and Aim: The purpose of phenylketonuria (PKU) screening is to assess the risk of, and prevent, the disease in the newborns likely inflicted with it. The aim of this study was to investigate why and how PKU screening was decided to be included in the national health agenda, initiated and implemented in Iran. Materials and Methods: This qualitative study was conducted based on the Kin...

بررسی اپیدمیولوژیک بیماری فنیل کتونوری در استان لرستان

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 phenylketonuri...