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    SubjectsBiochemistryInborn Errors of Metabolism — Urea Cycle Defects and Orotic Aciduria
    Pre-clinicalBiochemistry

    Inborn Errors of Metabolism — Urea Cycle Defects and Orotic Aciduria

    1 MCQs in Biochemistry for NEET PG

    1 Hard
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    Sample Questions

    hard

    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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