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

    A 2-year-old girl from Tamil Nadu presents with failure to thrive, recurrent respiratory infections, and progressive loss of developmental milestones. On examination, she has marked hepatosplenomegaly and a vertical supranuclear gaze palsy. Bone marrow aspiration shows foamy macrophages. Filipin staining of cultured fibroblasts shows abnormal cholesterol accumulation. Which enzyme deficiency is responsible for this disorder?

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