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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 (PKU) is an inborn error of metabolism transmitted genetically. Both parents must be carriers of the gene to produce a child with this condition. When both parents are carriers of the gene, chances of an affected child occurring are one in four for each pregnancy. There is a 50% chance that a child born to these parents will be a carrier of the phenylketonuria gene. There are no known clinical signs of PKU present in a newborn.