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

作者：Bone Ashley; Kuehl Angela K; Angelino Andrew F^*

来源：Psychosomatics, 2012, 53(6): 517-523.

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. (Psychosomatics 2012; 53:517-523)

• 出版日期2012-12