Question

Which of the following enzyme is defective in galactosemia—a fatal genetic disorder in infants?

• A. Glucokinase
• B. Galactokinase
• C. UDP-galactose 4-epimerase
• D. Galactose-1-phosphate uridyltransferase

Hint:

Focus on the enzymes involved in galactose metabolism and their roles in preventing toxic accumulation.

Answer 1

The Correct Option is D

Galactosemia is caused by a deficiency in galactose-1-phosphate uridyltransferase (GALT). This enzyme is responsible for converting galactose-1-phosphate into UDP-galactose, a critical step in galactose metabolism. Without this enzyme, toxic levels of galactose-1-phosphate accumulate, leading to severe complications like liver damage, developmental delays, and cataracts.