2016
DOI: 10.1002/pnp.417
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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.

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“…Background : PKU is a genetic metabolic disorder in which the body lacks a liver enzyme (phenylalanine hydroxlase) needed to process phenylalanine, an essential amino acid, into another amino acid (tyrosine) used by the body [7]. Left unconverted, excessive amounts of phenylalanine in the bloodstream are toxic to brain tissue and the central nervous system; if untreated in newborns, PKU can cause brain damage and mental retardation.…”
Section: On His Own In Addition He Is Unable To Control Urination Anmentioning
confidence: 99%
“…Background : PKU is a genetic metabolic disorder in which the body lacks a liver enzyme (phenylalanine hydroxlase) needed to process phenylalanine, an essential amino acid, into another amino acid (tyrosine) used by the body [7]. Left unconverted, excessive amounts of phenylalanine in the bloodstream are toxic to brain tissue and the central nervous system; if untreated in newborns, PKU can cause brain damage and mental retardation.…”
Section: On His Own In Addition He Is Unable To Control Urination Anmentioning
confidence: 99%