1 MCQs in Biochemistry for NEET PG
A 4-month-old male infant born to consanguineous parents presents with poor feeding, vomiting, and hepatomegaly. Investigations reveal elevated plasma ammonia (180 µmol/L), normal blood glucose, and normal plasma amino acid profile except for mild hypercitrullinemia. Urine orotic acid is markedly elevated. Genetic testing confirms a deficiency in the second enzyme of the urea cycle. Which of the following enzyme deficiencies best explains this clinical presentation?
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