A lysosomal storage disorder in mice characterized by the accumulation of several sphingolipids

A strain of BALB/c mice with an autosomal recessive neurologic disorder has been reported previously [1, 2]. The tissues of affected animals have been further examined and the activities of varius lysosomal hydrolases and levels of sphingolipids were compared to those in control mice. There was a substantial diminution of sphingomyelinase and glucocerebrosidase activities in liver, spleen, lung, thymus, and kidney of affected mice. There was a corresponding accumulation of sphingomyelin and glucocerebroside in these tissues. The activity of several other lysosomal hydrolases was elevated. Heterozygotes did not show any of the enzymatic alterations. The brain of affected animals showed substantial accumulation of the gangliosides GM3 and GM2.