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    Phenylketonuria (Pku)

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    Ai Rou

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    Attribution Non-Commercial (BY-NC)
    Download as PPTX, PDF, TXT or read online from Scribd

    Phenylketonuria (Pku)

    Uploaded by

    Ai Rou
    80 views8 pages

    Original Title

    PHENYLKETONURIA(PKU)

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    Copyright:

    Attribution Non-Commercial (BY-NC)
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    Download as pptx, pdf, or txt
    80 views8 pages

    Phenylketonuria (Pku)

    Uploaded by

    Ai Rou

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    of 8

    PHENYLKETONURIA

    (PKU)
    The normal metabolism of phenylalanine
    (pathways a and b)

    BREAKDOWN

    Dietry
    sources, PHENYLALANINE
    particularly HYDROXYLASE
    PHENYLALANINE TYROSINE
    plant (a)
    proteins

    (b)
    BODY
    PROTEINS

    © 2008 Paul Billiet ODWS


    The abnormal metabolism in phenylketonuric subjects
    (pathway c)

    HYDROXYPHENYLACETIC
    ACID

    (c)
    Dietry
    sources, PHENYLALANINE
    particularly HYDROXYLASE
    PHENYLALANINE*
    plant (a)
    proteins
    (c)
    (b)
    PHENYLACETIC BODY
    ACID* PROTEINS

    *Agents, thought to be responsible for mental retardation


    © 2008 Paul Billiet ODWS
    Test
     Ferric chloride + urine of new born baby
    Green colour in the presence of ketone
    bodies

    © 2008 Paul Billiet ODWS


    Treatment
     A strictly controlled phenylalanine free diet
     up to the age of about 14 years old
     phenylalanine is itself an essential amino
    acid small doses must be supplied
     After this age the growth and development
    of the brain is not affected by high levels
    of phenylalanine in the body

    © 2008 Paul Billiet ODWS


    Frequency
     1 in 10 000 in Caucasians of NW Europe

    © 2008 Paul Billiet ODWS


    Causes
    1. A single mutant recessive allele of the
    Phenylalanine Hydroxylase (PAH) gene
    Locus : Long arm of Chromosome 12
    2. Dietary excess of plant proteins which
    results in the exhaustion of a protein
    cofactor (pterin) needed by the enzyme

    © 2008 Paul Billiet ODWS


    Evolution
     Heterozygotes (carriers) are thought to be
    less susceptible to toxins produced by the
    moulds Aspergillus and Penecillium
     These grow on foods in damp wet climates
    (e.g. NW Europe)
     Heterozygous women show lower
    spontaneous abortion rates

    © 2008 Paul Billiet ODWS

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