Mutation analysis in Turkish phenylketonuria patients.
نویسندگان
چکیده
منابع مشابه
Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria
Background: Phenylketonuria as the most common genetic metabolic disorder is the result of disruption of the phenylalanine hydroxylase gene. This study was carried out to explore the phenylalanine hydroxylase gene mutation status of Iranian phenylketonuria patients. Methods: Blood samples were collected from 30 patients, and hot spot areas of the phenylalanine hydroxylase gene, in...
متن کاملA preliminary mutation analysis of phenylketonuria in southwest Iran.
Phenylketonuria (PKU) is a heterogeneous and autosomal recessive metabolic disorder that is mainly caused by mutations in the hepatic phenylalanine hydroxylase (PAH) gene. This study was designed to identify PAH mutations within exons 6, 7, and 10-12 in PKU patients from southwest Iran. Forty Iranian patients with clinical and biochemically confirmed PKU were enrolled. The exons were sequenced ...
متن کاملAnemia in Patients with Phenylketonuria in Yazd
Abstract Background Phenyl ketonuria (PKU) is a congenital metabolic disease. Irreversible brain damage is the result of phenyl alanin accumulation, so its amount should be restricted in patients diet. In their diet, trace elements such as hem Iron, folic acid, vitamin B12 and, etc are also limited, and could represent anemia. In this study, the frequency of anemia in PKU patients in Yazd wa...
متن کاملMutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria.
AIM Phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene resulting in a primary deficiency of the PAH enzyme activity, intolerance to the dietary intake of phenylalanine (Phe), and production of the phenylketonuria disease. To date there have been no reports on the molecular analysis of phenylketonuria in the Iranian Azeri Turkish population. In this study, a total ...
متن کاملMediterranean fever gene mutation analysis in infertile Turkish males.
Male infertility is a common barrier that prevents successful conception. There have been reports of azoospermia in men with familial Mediterranean fever, some of whom had not been treated with colchicine. Variation in this disorder could be a risk factor for amyloidosis associated with azoospermia. We determined the frequency of 6 of the most common Mediterranean fever gene mutations, M680I, M...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1993
ISSN: 1468-6244
DOI: 10.1136/jmg.30.2.129