Question

Which of the following disorder occurs due to the deficiency of galactose-1-phosphate uridyltransferase?

• A. Galactosaemia
• B. Harmochromatosis
• C. Wilson's Disease
• D. Reye's Syndrome

Hint:

Always connect enzyme deficiencies with their respective metabolic disorders. Galactosaemia = galactose-1-phosphate uridyltransferase deficiency.

Answer 1

The Correct Option is A

Step 1: Recall the metabolic role of the enzyme.
Galactose-1-phosphate uridyltransferase is a crucial enzyme in the Leloir pathway, which converts galactose into glucose-1-phosphate for energy metabolism.
If this enzyme is deficient, galactose-1-phosphate accumulates inside cells, especially in the liver, kidney, and brain. This causes toxic effects.
Step 2: Understand Galactosaemia.
Galactosaemia is a rare autosomal recessive metabolic disorder. In this condition, newborns present with vomiting, diarrhea, failure to thrive, hepatomegaly, jaundice, and even cataracts due to galactose accumulation.
If untreated, it may lead to intellectual disability, liver cirrhosis, and even death. The only treatment is dietary restriction of galactose and lactose.
Step 3: Exclude other options.
- (B) Harmochromatosis: A disorder due to excessive iron absorption, not related to galactose metabolism.
- (C) Wilson's Disease: A disorder due to defective copper metabolism, unrelated to galactose.
- (D) Reye's Syndrome: A rare condition associated with viral infection and aspirin use, not caused by galactose metabolism.
Step 4: Conclusion.
Hence, the correct answer is Galactosaemia, caused by deficiency of galactose-1-phosphate uridyltransferase.