Phenylketonuria - genetic, clinical and therapeutic aspects
نویسندگان
چکیده
Biochemistry and genetics of PKU The normal route for Phe metabolism is its hydroxylation to tyrosine, catalyzed by PAH and requiring tetrahydrobiopterin as a cofactor. The human PAH gene is located on chromosome 12q23.2 and contains 13 exons. More than 500 disease-causing mutations have been identified in patients with PKU or hyperphenylalaninaemia (HPA), 67% of them being missense mutations. Most of them result in severe enzyme deficiency generating the PKU phenotype, but some are associated with a ”non-PKU HPA” phenotype. Since the PAH gene is biallelic, most patients are compound heterozygotes.
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