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    SubjectsPediatricsGenetic & Metabolic Disorders – Phenylketonuria (PKU) Management
    ClinicalPediatrics

    Genetic & Metabolic Disorders – Phenylketonuria (PKU) Management

    1 MCQs in Pediatrics for NEET PG

    1 Hard
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    Sample Questions

    hard

    A 6-month-old female infant presents with poor feeding, vomiting, and lethargy that worsens after milk feeds. On examination, she has hepatomegaly and a musty odor to her urine. Newborn screening was not performed. Serum amino acid analysis shows elevated phenylalanine (1200 µmol/L; normal <120 µmol/L) and elevated tyrosine. Urine organic acids show phenylpyruvate. Which of the following is the most appropriate immediate management?

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