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    Subjects/Biochemistry/Urea Cycle Defects and Hyperammonemia
    Urea Cycle Defects and Hyperammonemia
    hard
    flask-conical Biochemistry

    A 6-month-old female infant from a consanguineous family presents with recurrent vomiting, poor growth, and developmental delay. She has an aversion to protein-containing foods. Serum ammonia is 250 µmol/L. Plasma amino acid analysis shows markedly elevated citrulline (450 µmol/L; normal: 15–45) and low arginine. Urinary orotic acid is normal. What is the most likely diagnosis?

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