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    Subjects/Biochemistry/Glycogen Storage Disorders
    Glycogen Storage Disorders
    medium
    flask-conical Biochemistry

    A 3-year-old boy from rural Maharashtra presents with hepatomegaly, failure to thrive, and recurrent hypoglycaemic episodes. Serum lactate is elevated at 8 mmol/L (normal <2). On examination, he has a doll-like face with fat cheeks and short stature. Which investigation is most specific for confirming glycogen storage disease type I (Von Gierke disease)?

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