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

    A 3-year-old boy from rural Maharashtra presents with progressive hepatosplenomegaly, developmental delay, and cherry-red spot on the macula on fundoscopy. Bone marrow examination shows foamy macrophages. Enzyme assay reveals deficiency of hexosaminidase A. What is the most appropriate next step in management?

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