Question:medium

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 stems from a deficiency in galactose-1-phosphate uridyltransferase (GALT). This enzyme is essential for converting galactose-1-phosphate to UDP-galactose, a critical step in galactose metabolism. Its absence leads to a toxic accumulation of galactose-1-phosphate, causing severe complications such as liver damage, developmental delays, and cataracts.

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