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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. 1  Inborn metabolic disorder in which the homozygous recessive individual lacks the enzyme phenylalaine hydroxylase needed to change phenylalanine (amino acid) to tyrosine (amino acid). 2  Lack of the enzyme phenylalanine hydroxylase is due to the the abnormal autosomal recessive gene on chromosome 12. In children, symptoms are mental retardation, decrease pigmentation of hair and skin and eczema.