Phenylketonuria in an adult with normal diet

Abstract

Phenylketonuria (PKU) is a rare inborn error of metabolism. It is caused by the deficiency of phenylalanine hydroxylase, an enzyme which converts phenylalanine to tyrosine and can cause severe learning disability in children if untreated. Drs Balaji et al. describe a case of an adult female with phenylketonuria and schizophrenia who was non-compliant with the PKU diet. The case raises questions about the management of this condition in adults.