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    Subjects/Biochemistry/Phenylalanine and Tyrosine Metabolism
    Phenylalanine and Tyrosine Metabolism
    hard
    flask-conical Biochemistry

    A 6-month-old infant with a history of poor feeding and developmental delay is found to have elevated serum phenylalanine (850 µmol/L) and normal tyrosine levels on plasma amino acid analysis. Phenylalanine hydroxylase activity is normal on liver biopsy. Which investigation would best identify the underlying defect?

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