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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.
autosomal recessive: A mode of inheritance of genetic traits located on the allosomes (the sex determining chromosomes). Phenylketonuria: An autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase, rendering it nonfunctional. phenylalanine: An essential amino acid C 9 H 11 NO 2 found in most animal proteins; it is essential for growth; the inability to metabolize it leads to phenylketonuria; it is a constituent of aspartame.