Neuropsychology Review

, Volume 17, Issue 2, pp 91–101 | Cite as

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

  • J. J. Moyle
  • A. M. Fox
  • M. Arthur
  • M. Bynevelt
  • J. R. Burnett
Original Paper


Phenylketonuria (PKU; OMIM 261600) is an autosomal 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.


Phenylketonuria Phenylalanine Phenylalanine hydroxylase Meta-analysis Oligodendrocytes 


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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • J. J. Moyle
    • 1
    • 6
  • A. M. Fox
    • 1
  • M. Arthur
    • 2
  • M. Bynevelt
    • 3
  • J. R. Burnett
    • 4
    • 5
  1. 1.School of PsychologyThe University of Western AustraliaPerthAustralia
  2. 2.Department of Dietetics and NutritionRoyal Perth HospitalPerthAustralia
  3. 3.Department of RadiologyRoyal Perth HospitalPerthAustralia
  4. 4.Department of Core Clinical Pathology and BiochemistryPathWest Laboratory Medicine WA, Royal Perth HospitalPerthAustralia
  5. 5.School of Medicine and PharmacologyThe University of Western AustraliaPerthAustralia
  6. 6.c/- The Brain Resource Company Level 12PerthAustralia

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