Urea Cycle Defects and Hyperammonemia MCQ — NEET PG Practice Question | NEETPGAI
Urea Cycle Defects and Hyperammonemia
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flask-conical Biochemistry
A 6-year-old girl with a history of recurrent episodes of vomiting, lethargy, and ataxia (triggered by protein-rich meals) is found to have serum ammonia of 180 µmol/L. Plasma amino acid profile shows elevated glutamine, alanine, and **elevated argininosuccinate**. Which is the most appropriate confirmatory investigation?
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