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Scenario:Metabolism Disorder

Discussion in 'Test your knowledge' started by Drkub, Sep 5, 2011.

  1. Drkub

    Drkub New Member

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    A 54 year old man with a rare recessive condition with history of coronary artery disease and is at high risk for deep venous thrombosis and stroke,he had replacement of ectopic lenses.CBC shows normal hematocrit without any signs of macrocytic anemia.
    The following signs belongs to which of the following genetic disorder?
    1.Alkaptonuria
    2.Phenylketonuria
    3.Homocystenuria
    4.Wernicks Korsakoff
  2. xavier

    xavier Forum Moderator Forum Moderator

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    Option C)Homocystenuria
  3. charcot

    charcot Member

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    C...Homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine.This defect leads to a multisystemic disorder of the connective tissue, muscles, CNS, and cardiovascular system. It is an inherited autosomal recessive trait............
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