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...of the body to metabolize the amino acid phenylalanine. Phenylalanine is normally converted in the human body to tyrosine, another amino acid, by a specific organic catalyst, or enzyme, called phenylalanine hydroxylase. This enzyme is not active in individuals who have phenylketonuria.
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.