A Neuropsychiatric Perspective of Phenylketonuria I: Overview of Phenylketonuria and Its Neuropsychiatric Sequelae

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 neurops...

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Bibliographic Details
Published in:Psychosomatics (Washington, D.C.) D.C.), 2012-11, Vol.53 (6), p.517-523
Main Authors: Bone, Ashley, M.D, Kuehl, Angela K., Pharm.D., M.S, Angelino, Andrew F., M.D., D.F.A.P.A
Format: Article
Language:English
Subjects:
Age Factors
Aminoacid disorders
Biological and medical sciences
Brain - metabolism
Brain - physiopathology
Child
Child Behavior Disorders - etiology
Cognition Disorders - blood
Cognition Disorders - etiology
Cognition Disorders - psychology
Developmental Disabilities - blood
Developmental Disabilities - etiology
Diet, Protein-Restricted
Errors of metabolism
Humans
Internal Medicine
Medical sciences
Metabolic diseases
Neuropsychiatry
Patient Compliance
Phenylalanine - blood
Phenylketonurias - blood
Phenylketonurias - complications
Phenylketonurias - therapy
Psychiatry
Referral and Consultation
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Summary: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.
ISSN:0033-3182
1545-7206
DOI:10.1016/j.psym.2012.04.010