Tag Archives: gaucher

Gaucher's disease

Gaucher's disease, caused by a hereditary deficiency of glucocerebrosidase, is a genetic disease in which fatty cells accumulate due to lysosomal storage defects. Glucocerebrosidase normally chops up certain lipids. Symptoms include bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. Around 1 in 100 are carriers for Gaucher's disease, whereas 1… Read More »