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Phenylketonuria (PKU) is located in the q arm of chromosome 12. It is caused by a mutation of the (PAH) phenylalanine hydroxylase gene. The (PAH) gene produces the enzyme phenylalanine hydroxylase and it then converts the phenylalanine to tyrosine.enetic Testing. The phenylalanine tolerance test is one form of genetic testing for PKU. It is performed by giving a person a measured amount of phenylalanine and the concentration of phenylalanine in the blood plasma is measured.
Classical PKU is caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH). Over 70 different mutations on the PAH gene found on Chromosome 12 have been found to cause the almost complete absence of PAH as seen in PKU patients.revalence. The incidence of PKU is highly variable in different populations. Many PAH gene mutations are thought to be Celtic in origin, this is supported by high frequencies of PKU in the Irish and in the Scottish, and for example an incidence of 1/4500 is seen in the Irish.