Question

Meenu is suffering from a genetic disorder in which phenylpyruvic acid and its metabolites accumulate in blood. It causes impairment of nervous tissues. Which enzyme deficiency has caused this disorder in Meenu?

Hint:

PKU is a classic example of pleiotropy, where a single gene mutation affects multiple phenotypic traits.

Answer 1

Step 1: Understanding the Concept:
The symptoms point to Phenylketonuria (PKU), an autosomal recessive metabolic disorder.

Step 2: Detailed Explanation:
In an individual with PKU, the body lacks the enzyme phenylalanine hydroxylase.
This enzyme is responsible for converting the amino acid phenylalanine into tyrosine.
Without it, phenylalanine builds up and is converted into phenylpyruvic acid, which causes mental retardation and nervous system damage.

Step 3: Final Answer:
The deficiency is of the enzyme Phenylalanine hydroxylase.