Urea Cycle Defects and Hyperammonemia MCQ — NEET PG Practice Question | NEETPGAI
Urea Cycle Defects and Hyperammonemia
hard
flask-conical Biochemistry
A 3-day-old male infant born to non-consanguineous parents presents with poor feeding, lethargy, and seizures. Serum ammonia is 380 μmol/L (normal <50). Plasma amino acid analysis shows elevated glutamine and alanine with low citrulline. Which is the most common site of enzymatic defect in the urea cycle in this clinical scenario?
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