CEREBROSIDE SYNTHESIS IN GAUCHER'S DISEASE *

Abstract

Familial lipodystrophic conditions, such as Gaucher's, Niemann-Pick, and Tay-Sachs dis- ease, are characterized by the intracellular ac- cumulation of abnormally large quantities of sphingolipids. In Gaucher's disease, the offend- ing lipids are cerebrosides, while Niemann-Pick and Tay-Sachs diseases are characterized by the accumulation of sphingomyelin and gangliosides, respectively. In Gaucher's and Niemann-Pick disease, involvement of the reticuloendothelial sys- tem is extensive, and splenomegaly and hepato- megaly are frequently observed. Lieb in 1924 ( 1 ) identified the lipid stored in reticuloendothelial cells in a case of Gaucher's disease as a cerebro- side. His findings were supported by other in- vestigators (2, 3), and eventually Halliday, Deuel, Tragerman and Ward (4) and Rosenberg and Chargaff (5) presented evidence that the ac- cumulated cerebrosides in Gaucher's disease con- tained predominantly glucose instead of the high content of galactose usually present in cerebrosides.