Abstract Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH). The disease may present clinically with seizures, albinism (excessively fair hair and skin), and a ‘‘musty odor’’ to the baby’s sweat and urine. In the untreated classic case, mental retardation is severe, precluding speech and toilet ... Read more