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Phenylketonuria in an adult with normal diet
Author(s) -
Balaji Kanmani,
Narayan Manoj,
Bradbury Sarah,
Michael Dasari
Publication year - 2016
Publication title -
progress in neurology and psychiatry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.19
H-Index - 12
eISSN - 1931-227X
pISSN - 1367-7543
DOI - 10.1002/pnp.417
Subject(s) - phenylalanine hydroxylase , phenylalanine , tyrosine , inborn error of metabolism , endocrinology , medicine , schizophrenia (object oriented programming) , phenylketonurias , pediatrics , psychiatry , chemistry , biochemistry , amino acid
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.