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    SubjectsPediatricsFatty Acid Oxidation Disorders — Primary Carnitine Deficiency
    ClinicalPediatrics

    Fatty Acid Oxidation Disorders — Primary Carnitine Deficiency

    1 MCQs in Pediatrics for NEET PG

    1 Hard
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    Sample Questions

    hard

    A 4-year-old girl from a consanguineous family presents with recurrent episodes of hypoketotic hypoglycemia, hepatomegaly, and growth retardation. Serum carnitine levels are low. Urine organic acids show elevated dicarboxylic acids. Plasma acylcarnitine profile reveals elevated long-chain acylcarnitines. Which of the following is the most likely diagnosis?

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