A 9 month child was taken to pediatric OPD by his mother. Mother complained of the child having lethargy, convulsions, fine tremors, failure to thrive & areas of patchy hair loss on scalp. On investigation, serum ammonia and glutamine levels were increased. Microscopic examination reveals following findings in hair. Which enzyme deficiency is responsible for above symptoms?
A 9 month child was taken to pediatric OPD by his mother. Mother complained of the child having lethargy, convulsions, fine tremors, failure to thrive & areas of patchy hair loss on scalp. On investigation, serum ammonia and glutamine levels were increased. Microscopic examination reveals following findings in hair. Which enzyme deficiency is responsible for above symptoms?
💡 Explanation
A 9 month child was taken to pediatric OPD by his mother. Mother complained of the child having lethargy, convulsions, fine tremors, failure to thrive & areas of patchy hair loss on scalp. On investigation, serum ammonia and glutamine levels were increased. Microscopic examination reveals following findings in hair. Which enzyme deficiency is responsible for above symptoms?
✓ Correct Answer: D. Arginosuccinate lyase
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