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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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Published in: | Psychosomatics (Washington, D.C.) D.C.), 2012-11, Vol.53 (6), p.517-523 |
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container_title | Psychosomatics (Washington, D.C.) |
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creator | Bone, Ashley, M.D Kuehl, Angela K., Pharm.D., M.S Angelino, Andrew F., M.D., D.F.A.P.A |
description | 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. |
doi_str_mv | 10.1016/j.psym.2012.04.010 |
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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. 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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 |
title | A Neuropsychiatric Perspective of Phenylketonuria I: Overview of Phenylketonuria and Its Neuropsychiatric Sequelae |
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