Principle Of Inheritance And Variation Question 536

Question: Assertion : Phenylketonuria is a recessive hereditary disease caused by body?s failure to oxidise an amino acid phendylanine to tryrosine, because of a defective enzyme. Reason : It results the presence of phenylalanine acid in urine. [AIIMS 2000]

Options:

A) If both the assertion and the reason are true and the reason is a correct explanation of the assertion

B) If both the assertion and reason are true but the reason is not a correct explanation of the assertion

C) If the assertion is true but the reason is false

D) If both the assertion and reason are false

Show Answer

Answer:

Correct Answer: A

Solution:

Phenylketonuria is due to deficency of liver enzyme Phenyanaline hydroxylase which converts phenylanine into tryosine.

It occurs in person who are homozygous recessive.

It results with a high level of phenylalanine in blood, tissue fluids and urine.