A 48-year-old lady presented with hepatosplenomegaly with pancytopenia. On bone marrow examination, a tissue paper crumpled appearance is seen. Which is the most likely product to have accumulated?
Ans. (a) Glucocerebroside(Ref: R 9th/pg 151; 8th/pg 151)The clinical feature and bone marrow feature is typical of Gauchers disease. This results due to accumulation of cerebroside Q inside mononuclear phagocytic cells due to deficiency of b-glucocerebrosidase.
Glucocerebroside
Sphingomylin
Sulfatide
Ganglioside
Genetics