Atypical phenylketonuria. An approach to diagnosis and management.
نویسندگان
چکیده
منابع مشابه
Phenylketonuria from Genetics to Clinics: An Iranian Prospect
Phenylketonuria (PKU) is the most common autosomal recessive disorder of amino acid metabolism. Thedisease is caused mainly by mutations in the phenylalanine hydroxylase (PAH) gene, encoding phenylalaninehydroxylase (PAH) enzyme. The PAH enzyme deficiency results in the elevation of phenylalanine inthe blood, which may cause severe irreversible mental retardation in the affect...
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Atypical phenylketonuria among infants with hyperphenylalaninemia must be promptly diagnosed and differentiated from classical phenylketonuria, because these patients require different treatment to prevent irreversible neurological damage. Measurement of pteridines in urine by liquid chromatography has been widely used for this purpose. Here we report a rapid, simplified liquid-chromatographic ...
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Rapid and in time diagnosis of phenylketonuria (PKU) in affected infants can help preventing the progress of mental and developmental disorders associated with the disease. Here we report the isolation of alkaliphilic Bacillus bacteria capable of producing high level of Phenylalanine dehydrogenase (PheDH) from soil. A new quantitative and rapid test for PKU diagnosis was then developed using th...
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ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 45 242 شماره
صفحات -
تاریخ انتشار 1970