Studies Concerning the Pathogenesis of Gaucher’s Disease

Abstract

Abstract 1. The serum of normal individuals and of patients with Gaucher’s disease does not contain cerebrosides in measurable amounts. Cerebrosides in Gaucher’s disease are increased only in those organs containing abundant numbers of cells characteristic of the disease. 2. Normal red blood cells contain approximately 0.19 per cent cerebrosides. The cerebroside in red blood cells is a galactosidocerebroside. 3. Red blood cells in Gaucher’s disease do not differ quantitatively and qualitatively in their cerebroside content from the red blood cells of normal individuals. 4. In four different cases of Gaucher’s disease separate determinations of splenic galactosido- and glucosidocerebrosides were made. The spleen of two adults showed mainly glucosidocerebrosides and only traces of galactosidocerebrosides, while the analysis of the spleen of two other adults showed that galactosido- as well as glucosidocerebrosides may be accumulated simultaneously in Gaucher cells. These findings are of importance, since it is demonstrated that the deviation of the cerebroside metabolism in Gaucher cells not only results in the formation of an abnormal glucosidocerebroside, but also may lead to the increased formation of the normal galactosidocerebroside, kerasin. It is demonstrated that the relative proportions of galactosido- and glucosidocerebrosides in Gaucher cells may differ considerably in individual cases. 5. The organs of infantile siblings with "generalized infantile Gaucher’s" disease were analyzed. The organs of one infant showed mainly galactosidocerebrosides while in the organs of the other sibling both kinds of cerebrosides, glucosido- as well as galactosidocerebrosides, were present. 6. The findings reported in this paper lend support to the theory that Gaucher’s disease is the result of a deviation of the intracellular metabolism of reticulum cells and histiocytes. The cerebrosides are not transported by the serum or by the red blood cells and secondarily deposited in the cells involved, but are formed and stored in the reticulum cells and histiocytes were they are found.