ABSTRACT
Phenylketonuria is an inherited disorder of protein metabolism. Both parents, though apparently normal, are heterozygous for the condition; that is, they are carriers. As with all autosomal recessive disorders, the risk figures for each pregnancy are that one out of four children will be affected with the metabolic disorder, commonly known as PKU. These children are unable to metabolize the amino acid phenylalanine because they lack the necessary enzyme phenylalanine hydroxylase. As a result, high levels of phenylalanine are maintained in the child’s body. This disorder is associated with mental retardation.
