Question:
A 2-week-old baby presented with vomiting, acidosis, early cataract. Which of the following enzyme is defective?
A 2-week-old baby presented with vomiting, acidosis, early cataract. Which of the following enzyme is defective?
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In galactosemia, the defect in galactose-1-phosphate uridyl transferase leads to the accumulation of galactose and its metabolites, which cause cataracts, liver damage, and other systemic symptoms.
Updated On: Mar 24, 2025
- Galactose-1-phosphate uridyl transferase
- Galactokinase
- Hexokinase
- Aldol reductase
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The Correct Option is A
Solution and Explanation
The symptoms of vomiting, acidosis, and early cataract in a 2-week-old baby are suggestive of galactosemia. The enzyme defect in galactosemia is typically due to a deficiency in galactose-1-phosphate uridyl transferase, which is responsible for metabolizing galactose.
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