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Phenylketonuria Definition: Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.henylketonuria Definition: Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
Phenylketonuria Genetics. Phenylketonuria is an autosomal recessive genetic disease. This means both parents must have a defective gene in their DNA to pass this disease to a child. DNA. DNA is the genetic material that largely determines our health. It is present in every cell in the body. Chromosomes.