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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.
The PAH gene produces an enzyme that breaks down the amino acid phenylalanine. Mutations in the PAH gene can cause phenylketonuria (PKU), a disorder that can change cells in the brain.The faulty protein allows dangerously high levels of phenylalanine to accumulate in the brain, poisoning the cells.If a person with PKU consumes too much phenylalanine, the build-up can cause mental retardation.Keywords: faulty protein,phenylketonuria,phenylalanine,pah,mental retardation,amino acid,mutations,chromosome,pku,cells,brain.This work by Cold Spring Harbor Laboratory is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.aulty protein,phenylketonuria,phenylalanine,pah,mental retardation,amino acid,mutations,chromosome,pku,cells,brain. This work by Cold Spring Harbor Laboratory is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.