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    Phenylketonuria: An Inborn Error of Phenylalanine Metabolism

    Access Status
    Fulltext not available
    Authors
    Williams, R.
    Mamotte, Cyril
    Burnett, J.
    Date
    2008
    Type
    Journal Article
    
    Metadata
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    Citation
    Williams, Robin A. and Mamotte, Cyril D. S. and Burnett, John R. 2008. Phenylketonuria: An Inborn Error of Phenylalanine Metabolism. The Clinical Biochemist Reviews 29: pp. 31-41.
    Source Title
    The Clinical Biochemist Reviews
    ISBN
    0159 - 8090
    Faculty
    Faculty of Health Sciences
    School of Biomedical Sciences
    URI
    http://hdl.handle.net/20.500.11937/44157
    Collection
    • Curtin Research Publications
    Abstract

    Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of phenylalanine hydroxylase (PAH). Most forms of PKU and hyperphenylalaninaemia (HPA) are caused by mutations in the PAH gene on chromosome 12q23.2. Untreated PKU is associated with an abnormal phenotype which includes growth failure, poor skin pigmentation, microcephaly, seizures, global developmental delay and severe intellectual impairment. However, since the introduction of newborn screening programs and with early dietary intervention, children born with PKU can now expect to lead relatively normal lives. A better understanding of the biochemistry, genetics and molecular basis of PKU, as well as the need for improved treatment options, has led to the development of new therapeutic strategies.

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