Urea Cycle Defects and Hyperammonemia MCQ — NEET PG Practice Question | NEETPGAI
Urea Cycle Defects and Hyperammonemia
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flask-conical Biochemistry
A 3-day-old male neonate born to non-consanguineous parents presents with lethargy, poor feeding, and vomiting. Serum ammonia is 180 µmol/L (normal <50 µmol/L). Plasma amino acid profile shows elevated glutamine and alanine. Urine orotic acid is markedly elevated. Genetic testing confirms ornithine transcarbamylase (OTC) deficiency. What is the most appropriate immediate management?
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