Gaucher disease (glucocerebrosidase deficiency) type 1 (non-neuronopathic) is the most common lysosomal storage disorder among Ashkenazi Jews. The substrate that accumulates is glucocerebroside (glucosylceramide). Which cell type predominantly accumulates this lipid, and what is the characteristic histological finding?
- A Neurons; neurofibrillary tangles
- B Hepatocytes; micro-vesicular steatosis
- C Macrophages/Kupffer cells; 'wrinkled tissue paper' cytoplasm (Gaucher cells) ✓
- D Osteoblasts; woven bone formation
Correct answer: C. Macrophages/Kupffer cells; 'wrinkled tissue paper' cytoplasm (Gaucher cells)
Explanation
In Gaucher disease, glucocerebrosidase (acid beta-glucosidase) normally breaks down glucosylceramide from senescent RBC/WBC membranes in lysosomes of phagocytic cells (mainly macrophages). The lipid accumulates in macrophages of spleen, liver (Kupffer cells), bone marrow, and lung. The characteristic Gaucher cell has a distinctive 'wrinkled tissue paper' or 'crumpled silk' appearance of the cytoplasm due to massive glucocerebroside accumulation. Imiglucerase (recombinant glucocerebrosidase) is effective enzyme replacement therapy for Type 1.
Reference: Harper's Illustrated Biochemistry, 32nd ed.
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