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    Phenylketonuria (Pku)

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    Fahmy Abo Walid Kseibi
    Phenylketonuria (PKU) is a genetic disorder caused by a mutation in the phenylalanine hydroxylase gene that results in the abnormal metabolism of phenylalanine. In people with PKU, excess phenylalanine and its byproducts accumulate in the body and can cause intellectual disabilities if not treated early through a strict low-phenylalanine diet. The condition is diagnosed through a urine test detecting elevated ketone bodies and affects about 1 in 10,000 Caucasians of Northwestern European descent.

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    Phenylketonuria (Pku)

    Uploaded by

    Fahmy Abo Walid Kseibi
    9 views8 pages
    Phenylketonuria (PKU) is a genetic disorder caused by a mutation in the phenylalanine hydroxylase gene that results in the abnormal metabolism of phenylalanine. In people with PKU, excess phenylalanine and its byproducts accumulate in the body and can cause intellectual disabilities if not treated early through a strict low-phenylalanine diet. The condition is diagnosed through a urine test detecting elevated ketone bodies and affects about 1 in 10,000 Caucasians of Northwestern European descent.

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    PHENYLKETONURIA(PKU)

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    Phenylketonuria (PKU) is a genetic disorder caused by a mutation in the phenylalanine hydroxylase gene that results in the abnormal metabolism of phenylalanine. In people with PKU, excess phenylalanine and its byproducts accumulate in the body and can cause intellectual disabilities if not treated early through a strict low-phenylalanine diet. The condition is diagnosed through a urine test detecting elevated ketone bodies and affects about 1 in 10,000 Caucasians of Northwestern European descent.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PPT, PDF, TXT or read online from Scribd
    Download as ppt, pdf, or txt
    9 views8 pages

    Phenylketonuria (Pku)

    Uploaded by

    Fahmy Abo Walid Kseibi
    Phenylketonuria (PKU) is a genetic disorder caused by a mutation in the phenylalanine hydroxylase gene that results in the abnormal metabolism of phenylalanine. In people with PKU, excess phenylalanine and its byproducts accumulate in the body and can cause intellectual disabilities if not treated early through a strict low-phenylalanine diet. The condition is diagnosed through a urine test detecting elevated ketone bodies and affects about 1 in 10,000 Caucasians of Northwestern European descent.

    Copyright:

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

    PHENYLKETONURIA (PKU)

    The normal metabolism of phenylalanine (pathways a and b)


    BREAKDOWN

    Dietry sources, particularly plant proteins

    PHENYLALANINE

    PHENYLALANINE HYDROXYLASE

    (a) (b)

    TYROSINE

    BODY PROTEINS
    2008 Paul Billiet ODWS

    The abnormal metabolism in phenylketonuric subjects (pathway c)


    HYDROXYPHENYLACETIC ACID

    Dietry sources, particularly plant proteins

    (c)
    PHENYLALANINE HYDROXYLASE

    PHENYLALANINE* (a)

    (c)
    (b) PHENYLACETIC ACID* BODY 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.

    2.

    A single mutant recessive allele of the Phenylalanine Hydroxylase (PAH) gene Locus : Long arm of Chromosome 12 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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