title: A neuropsychiatric perspective of phenylketonuria I: overview of phenylketonuria and its neuropsychiatric sequelae.
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.
authors.affiliation: Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA.
authors.forename: Ashley
authors.initials: A
authors.lastname: Bone
authors.forename: Angela K
authors.initials: AK
authors.lastname: Kuehl
authors.forename: Andrew F
authors.initials: AF
authors.lastname: Angelino
mesh_terms: D000367:Age Factors; D001921:Brain / Q000378:metabolism / Q000503:physiopathology; D002648:Child; D002653:Child Behavior Disorders / Q000209:etiology; D003072:Cognition Disorders / Q000097:blood / Q000209:etiology* / Q000523:psychology; D002658:Developmental Disabilities / Q000097:blood / Q000209:etiology*; D018753:Diet, Protein-Restricted; D006801:Humans; D058027:Neuropsychiatry; D010349:Patient Compliance; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000097:blood / Q000150:complications / Q000628:therapy; D012017:Referral and Consultation
chemical_list: D010649:Phenylalanine