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Question

Assertion :Phenylketonuria is a recessive hereditary disease caused by failure of the body to oxidise an amino acid phenylalanine to tyrosine because of defective enzyme. Reason: It results in presence of phenylalanine in urine.

A
Both Assertion and Reason are correct and Reason is the correct explanation for Assertion
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B
Both Assertion and Reason are correct but Reason is not the correct explanation for Assertion
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C
Assertion is correct but Reason is incorrect
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D
Both Assertion and Reason are incorrect
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Solution

The correct option is A Both Assertion and Reason are correct and Reason is the correct explanation for Assertion
Phenylketonuria is an autosomal recessive mutation of a gene on chromosome number 12. It occurs when there is a deficiency of liver enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. There is a high level of phenylalanine in the blood and tissue fluid. Increased phenylalanine in the blood interfere with brain development, muscle and cartilage of the legs may be defective and the patient cannot walk properly.
So, the correct option is 'Both Assertion and Reason are correct and Reason is the correct explanation for Assertion'

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