A child is diagnosed of having Gaucher's disease. Histology may show accumulation of the following substance:
High-Yield Explanation
Gaucher disease is the most common autosomal recessive lipid storage disorder. Deficiency of the enzyme beta glucocerebrosidase results in accumulation of the glycolipid glucocerebroside in the cells of the macrophage-monocyte system. Diagnosis of Gaucher disease depends on demonstration of deficiency of beta glucocerebrosidase or identification of mutations in the beta glucocerebrosidase gene. Ref: Zimran A., Elstein D. (2010). Chapter 73. Lipid Storage Diseases. In J.T. Prchal, K. Kaushansky, M.A. Lichtman, T.J. Kipps, U. Seligsohn (Eds), Williams Hematology, 8e.