A neuropsychiatric perspective of phenylketonuria I: Overview of phenylketonuria and its neuropsychiatric sequelae

Research output: Contribution to journalReview article

Abstract

Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder that is associated with neuropsychiatric sequelae of varying severity. The natural history, epidemiology, and a history of the medical understanding and approaches to treatment of PKU are presented. Neurocognitive and neuropsychiatric sequelae of patients with untreated, early-treated, and continuously-treated PKU are described, and possible mechanisms for the symptoms are proposed. The authors propose an integrated approach to management of patients with PKU.

Original languageEnglish (US)
Pages (from-to)517-523
Number of pages7
JournalPsychosomatics
Volume53
Issue number6
DOIs
StatePublished - Nov 1 2012

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Applied Psychology
  • Psychiatry and Mental health

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