JIPMER Jipmer Medical Solved Paper-1997

  • question_answer
    Which one of the following is a genetic disease?

    A) Phenylketonuria

    B)        Blindness            

    C)        Cataract              

    D)         Leprosy

    Correct Answer: A

    Solution :

    Phenylketonuria (PKU) is a genetic disorder in which homozygous recessive individual lacks the enzyme phenylalanine hydroxilase needed to change phenylalanine (Amino acid) into tyrosine (Amino acid). Thus   biochemical abnormality in PKU is an inability to convert phenylalanine into tyrosine leading to hyperphenyl alaninemia.


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