Phenylketonuria in an adult with normal diet. Issue 2 (March 2016)

• Record Type: Journal Article
• Authors: Balaji, Kanmani; Narayan, Manoj; Bradbury, Sarah; Michael, Dasari
• Is Part Of: Progress in neurology and psychiatry. Volume 20:Issue 2(2016)
• Page Start: 7
• Page End: 9
• Publication Date: 2016-03
• Subjects: Neurology -- Periodicals; Psychiatry -- Periodicals; Nervous system -- Periodicals; 616.805
• DOI: 10.1002/pnp.417
• Languages: English
• ISSNs: 1367-7543

Abstract

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.