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  • P 4 Maple Syrup Urine Disease

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    Maple Syrup Urine Disease is a genetic disorder where the body cannot break down certain proteins, causing symptoms like coma, feeding difficulties, and urine that smells like maple syrup. It is inherited in an autosomal recessive pattern from carrier parents. The disease is caused by mutations in genes responsible for breaking down the amino acids leucine, isoleucine, and valine. Treatment requires a diet restricting these amino acids starting in early life to prevent brain damage. The disease can be managed but not cured through careful dietary and medical management.

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    Maple Syrup Urine Disease is a genetic disorder where the body cannot break down certain proteins, causing symptoms like coma, feeding difficulties, and urine that smells like maple syrup. It is inherited in an autosomal recessive pattern from carrier parents. The disease is caused by mutations in genes responsible for breaking down the amino acids leucine, isoleucine, and valine. Treatment requires a diet restricting these amino acids starting in early life to prevent brain damage. The disease can be managed but not cured through careful dietary and medical management.

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    743 views9 pages

    P 4 Maple Syrup Urine Disease

    Uploaded by

    api-308145910
    Maple Syrup Urine Disease is a genetic disorder where the body cannot break down certain proteins, causing symptoms like coma, feeding difficulties, and urine that smells like maple syrup. It is inherited in an autosomal recessive pattern from carrier parents. The disease is caused by mutations in genes responsible for breaking down the amino acids leucine, isoleucine, and valine. Treatment requires a diet restricting these amino acids starting in early life to prevent brain damage. The disease can be managed but not cured through careful dietary and medical management.

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    © All Rights Reserved
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    of 9

    Maple Syrup Urine

    Disease
    Eddie Vasquez
    What is the Maple Syrup
    Urine Disease?
    Its a disorder in which the body cant break down certain parts of proteins
    People with this condition will have urine that will smell like maple syrup
    The proteins that cant be broken down are leucine, isoleucine, and valine
    Symptoms
    Coma
    Feeding Difficulties
    Lethargy
    Seizures
    Urine that smells like Maple Syrup
    Vomiting

    Lethargy - Pathological state of sleepiness or deep unresponsiveness


    How DO People Inherit
    Maple Syrup Urine Disease?
    This Condition is spreaded in an
    autosomal pattern.

    The parent of an individual with the


    recessive condition carry one copy of
    the gene that is mutated.

    Autosomal Pattern is any


    chromosome that is not a sex
    chromosome.
    Mutations
    The mutation is deletion.
    Deletion is in which a part of a
    chromosome or a sequence of
    DNA is lost during DNA replication.
    Mutations in the
    BCKDHA(branched chain keto acid
    dehydrogenase E1, alpha
    polypeptide), BCKDHB(branched
    chain keto acid dehydrogenase E1,
    beta polypeptide), and
    DBT(dihydrolipoamide branched
    chain transacylase E2) genes can
    cause maple syrup urine disease.
    Is it possible to get
    infected with the disease?
    The Maple Syrup Urine
    Disease is actually
    inherited, meaning it's
    passed down through the
    family
    Its estimated that 1 out of
    185,000 infants will get the
    disease
    How Is It Treated
    The treatment involved is dietary
    restriction of the amino acids
    leucine, isoleucine, and valine. The
    treatment has to start early on in
    that persons life to prevent brain
    damage.
    the treatment would involve
    replacing the mutated gene with a
    good copy, allowing the person cell
    to break down the excess amino
    acids.no acid
    Is it Curable?

    The disease can be cured by going


    through a protein free diet which
    involves drinking lots fluids, sugars,
    and even sometimes fats
    For Long Term treatments, it
    requires a special diet for infants
    which is mainly baby formula with a
    low levels of amino acids valine,
    leucine, and isoleucine
    If the treatment is not followed at all
    it will result in nervous system
    damage
    Reference
    https://ghr.nlm.nih.gov/condition/m
    aple-syrup-urine-disease

    http://www.healthline.com/health/m
    aple-syrup-urine-
    disease#RiskFactors4

    http://www.nytimes.com/health/gui
    des/disease/maple-syrup-urine-
    disease/overview.html
    http://www.sciencedirect.com/scie
    nce/article/pii/S221442691400028
    7

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