AIIMS2019Botany-Genetic Disorders

AIIMS 2019 Botany Metabolic Disorders MCQ Question

Type: MCQ-conceptual-Medium-Class 12

Assertion: Phenylketonuria is a recessive hereditary diseases which is caused by the body’s failure to oxidize an amino acid phenylalanine to tyrosine, due to defective enzyme.

Reason: It results in the presence of phenylalanine acid in the urine.

A

If both assertion and reason are true and reason is the correct explanation of assertion.

B

If both assertion and reason are true but reason is not the correct explanation of assertion.

C

If assertion is true but reason is false.

D

If both assertion and reason are false.

Correct Answer

Option A

Detailed Explanation

Phenylketonuria (PKU) arises from a deficiency in the enzyme phenylalanine hydroxylase, which is crucial for converting phenylalanine into tyrosine. This enzymatic failure leads to an accumulation of phenylalanine in the blood, tissues, and urine, resulting in toxic effects that can cause neurological damage if untreated. Since options B, C, and D are not provided, they cannot be evaluated; however, understanding the biochemical pathway involved in PKU is essential for recognizing the implications of enzyme deficiencies in metabolic disorders.

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