Phenylketonuria (PKU) – A Success Story
نویسنده
چکیده
Phenylketonuria (PKU; OMIN 261600 and 261630) is an autosomal recessive geneticmetabolic disease. It is one of the most common of over 200 known such diseases, at least 30 of which have treatments to ameliorate the adverse effects. PKU is one of the first diseases causing mental and physical disability for which successful treatment has been developed. The cause of PKU is defective function of the enzyme phenylanine hydroxylase (EC 1.14.16.1) which converts phenylalanine to tyrosine. A cofactor is tetrahydrobiopterin (BH4). The subsequent elevation of phenylalanine in the blood and brain results in profound, irreversible, mental retardation in a large number of the affected individuals. The fetuses of nubile women with PKU are at risk as a result of the toxic effect on organ development of high phenylalanine levels during pregnancy (Levy & Ghavama, 1996).
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