| PKU is an inherited metabolic disease. With this inborn error of metabolism, the body is unable to produce proteins or enzymes needed to convert certain toxic chemicals to non toxic ones, or to transport substances from one place to another. This occurs when the enzyme pheylalanine hydroxylase is defecteve. This causes a block in the biochemical pathway causing Phenylpyruvic Acid to build up, this acid inhibits pyruvate decarboxylase in the brain leaving less energy for the developing brain thus ultimatly leading to mental retardation. |