Question:
Which of the following enzyme is defective in galactosemia—a fatal genetic disorder in infants?
Which of the following enzyme is defective in galactosemia—a fatal genetic disorder in infants?
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Focus on the enzymes involved in galactose metabolism and their roles in preventing toxic accumulation.
Updated On: Feb 11, 2026
- Glucokinase
- Galactokinase
- UDP-galactose 4-epimerase
- Galactose-1-phosphate uridyltransferase
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The Correct Option is D
Solution and Explanation
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.
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