Question

Congenital metabolic disorder is:

• A. Phenylketonuria
• B. Colour blindness
• C. Haemophilia
• D. Anaemia

Hint:

Phenylketonuria (PKU) is an inborn error of metabolism caused by the absence of phenylalanine hydroxylase enzyme.

Answer 1

The Correct Option is A

Step 1: Understanding congenital metabolic disorders.
Congenital metabolic disorders are inherited conditions that affect enzyme function and biochemical pathways from birth, leading to improper metabolism of certain substances.

Step 2: Analysis of options.
- (A) Phenylketonuria: A congenital metabolic disorder caused by a mutation leading to deficiency of the enzyme phenylalanine hydroxylase. This prevents metabolism of phenylalanine, causing accumulation and severe neurological issues.
- (B) Colour blindness: A genetic disorder but not metabolic; it is due to defects in cone cells of the retina.
- (C) Haemophilia: A genetic bleeding disorder caused by deficiency of clotting factors, not metabolic.
- (D) Anaemia: May result from nutritional deficiency or other causes, but it is not categorized as a congenital metabolic disorder.

Step 3: Conclusion.
The correct answer is (A) Phenylketonuria, which is a congenital metabolic disorder.