Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria.
نویسندگان
چکیده
An extract from a liver biopsy of a patient with classical phenylketonuria contains phenylalanine 4-hydroxylase (EC 1.14.3.1) with a specific activity 0.27% of the normal activity of the hydroxylase. This enzyme from a patient with phenylketonuria is a structurally altered form of phenylalanine 4-hydroxylase that probably results from a mutation in the gene coding for the hydroxylase.
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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ورودعنوان ژورنال:
- Proceedings of the National Academy of Sciences of the United States of America
دوره 70 2 شماره
صفحات -
تاریخ انتشار 1973