Gaucher Disease

Gaucher Disease

Grace E. Kim, MD

H&E slide shows clusters of enlarged Kupffer cells image with uniquely striated cytoplasm in the lobule.

PAS-D positive aggregates of Kupffer cells with faintly fibrillary cytoplasm image fill the sinusoids.



  • Glucocerebrosidase deficiency


Inborn Error of Metabolism

  • Most common lysosomal glycolipid storage disorder

    • Enzyme deficiency

      • Acid β-glucosidase (glucocerebrosidase)

    • Accumulation of glucocerebroside (also called glucosylceramide) in phagocytic cells

Autosomal Recessive Disorder

  • Mutation in GBA, encoding acid β-glucosidase, on 1q21

    • c.1226A>G (N370S allele) is the most common mutant allele

Jul 8, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Gaucher Disease

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