NCIt related terms : Glucosylceramide Beta-Glucosidase Deficiency;
NCIt definition : An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase.
It results in the accumulation of a fatty substance called glucocerebroside in mononuclear
cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include
hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders,
anemia and thrombocytopenia.;