Meta-Analysis of Neuropsychological Symptoms of Adolescents and Adults with PKU

J.J. Moyle, Allison Fox, M. Arthur, M. Bynevelt, J.R. Burnett

Research output: Contribution to journalArticlepeer-review

142 Citations (Scopus)


Phenylketonuria (PKU; OMIM 261600) is an antosomal recessive inborn error of phenylanaline metabolism. PKU is characterized by deficient or defective phenylalanine hydroxylase activity and persistantly increased levels of the essential amino acid phenylalanine in the circulation. The present article examines current understanding of the etiology of PKU, along with a meta-analysis examining neuropsychological and intellectual presentations in continuously treated adolescents and adults. Patients with PKU differed significantly from controls on Full-Scale IQ, processing speed, attention, inhibition, and motor control. Future research utilizing an integrative approach and detailed analysis of specific cognitive domains will assist both the scientist and clinician, and ultimately the patient.
Original languageEnglish
Pages (from-to)91-101
JournalNeuropsychology Review
Issue number2
Publication statusPublished - 2007


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