Inborn Errors of Metabolism — Urea Cycle Defects and Orotic Aciduria MCQ — NEET PG Practice Question | NEETPGAI
Inborn Errors of Metabolism — Urea Cycle Defects and Orotic Aciduria
hard
flask-conical Biochemistry
A 2-year-old girl is brought to the pediatric clinic with a history of failure to thrive, developmental delay, and recurrent infections. Laboratory investigations reveal elevated plasma ammonia (180 μmol/L), normal blood glucose, and normal plasma amino acid profile. Urine orotic acid is markedly elevated. Genetic testing confirms a deficiency in ornithine transcarbamylase (OTC). Which of the following metabolic derangements BEST explains the elevated urinary orotic acid in this patient?
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