A neuropsychiatric perspective of phenylketonuria I: overview of phenylketonuria and its neuropsychiatric sequelae.

Ashley Bone, Angela K Kuehl, Andrew F Angelino

Journal: Psychosomatics 2013;53(6):517-23

PMID: 23157991

Full Text on Elsevier Science View on PubMed

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.

Address: Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA.

DOI: 10.1016/j.psym.2012.04.010

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MeSH Terms: Age Factors, Brain, Child, Child Behavior Disorders, Cognition Disorders, Developmental Disabilities, Diet, Protein-Restricted, Humans, Neuropsychiatry, Patient Compliance, Phenylalanine, Phenylketonurias, Referral and Consultation