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 neonate born to consanguineous parents presents with poor feeding, lethargy, and seizures. Serum ammonia is 280 µmol/L (normal <50). Plasma amino acid profile shows elevated glutamine and alanine with low citrulline. Which investigation is most appropriate to confirm the specific urea cycle enzyme defect?
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