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Phenylketonuria (PKU) is a metabolic genetic disorder caused by mutations in the PAH gene, which encodes the hepatic enzyme phenylalanine hydroxylase. This enzyme is necessary to metabolize the amino acid phenylalanine into tyrosine. Without this enzyme functioning properly, phenylalanine is not broken down and builds up in the blood, which can lead to intellectual disability if not treated through dietary restrictions. The document includes a metabolic flowchart illustrating the pathway of phenylalanine breakdown and how it is disrupted in PKU due to the deficient phenylalanine hydroxylase enzyme.Read less