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Phenylketonuria

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  • First Online:
Encyclopedia of Clinical Neuropsychology

  • 39 Accesses

Synonyms

Følling’s disease; Hyperphenylalaninemia; Imbecillitas phenylpyrouvica; Oligophrenia phenylpyruvia; PKU

Definition

Phenylketonuria (PKU) is a rare autosomal recessive condition characterized by an inability to metabolize the amino acid phenylalanine. The most common variation of PKU is associated with a mutation of the phenylalanine hydroxylase (PAH) gene, located on chromosome 12q. Individuals with PKU have an absence of or significant deficiency in the PAH enzyme. Functional PAH is necessary for the metabolism of phenylalanine into tyrosine, a precursor for the neurotransmitter dopamine. Disruption of this metabolic process results in higher-than-normal levels of phenylalanine as well as decreased tyrosine levels. The excessive phenylalanine further competes with the available tyrosine and other large neutral amino acids (LNAAs) to cross the blood-brain barrier, ultimately resulting in decreased synthesis of dopamine and other neurotransmitters within the brain.

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References and Reading

  • Blau, N. (Ed.). (2006). PKU and BH4: Advances in phenylketonuria and tetrahydrobiopterin. Heilbronn: SPS.

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  • Christ, S. E. (2003). Asbjørn Følling and the discovery of phenylketonuria. Journal of the History of the Neurosciences, 12, 44–54.

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  • National Institutes of Health Consensus Development Panel. (2001). National Institutes of Health consensus development conference statement: Phenylketonuria: Screening and management, October 16-18, 2000. Pediatrics, 108, 972–982.

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  • Welsh, M. C., Pennington, B. F., Ozonoff, S., Rouse, B., & McCabe, E. R. R. (1990). Neuropsychology of early-treated phenylketonuria: Specific executive function deficits. Child Development, 61, 1697–1713.

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  • Al Hafid, N., & Christodoulou, J. (2015). Phenylketonuria: A review of current and future directions. Translational Pediatrics, 4(4), 304–317.

    PubMed  PubMed Central  Google Scholar 

  • Camo, K., Parisi, M., Acosta, P., Berry, G., Bilder, D., Blau, N., et al. (2014). Phenylketonuria scientific review conference: State of the science and future research needs. Molecular Genetics and Metabolism, 112(2), 87–122.

    Article  Google Scholar 

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Author information

Authors and Affiliations

  1. University of Missouri, Columbia, MO, USA

    Shawn E. Christ

Authors
  1. Shawn E. Christ
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Correspondence to Shawn E. Christ .

Editor information

Editors and Affiliations

  1. Richmond, Virgin Islands, USA

    Jeffrey Kreutzer

  2. Kessler Foundation , West Orange, New Jersey, USA

    John DeLuca

  3. Suite 200 , Wynnewood, Pennsylvania, USA

    Bruce Caplan

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Christ, S.E. (2018). Phenylketonuria. In: Kreutzer, J., DeLuca, J., Caplan, B. (eds) Encyclopedia of Clinical Neuropsychology. Springer, Cham. https://doi.org/10.1007/978-3-319-56782-2_1586-2

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  • DOI: https://doi.org/10.1007/978-3-319-56782-2_1586-2

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-56782-2

  • Online ISBN: 978-3-319-56782-2

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