Gaucher disease is a rare autosomal recessive disorder of lipid metabolism, characterized by a build of glucocerebroside in the body cells. Characteristic signs and symptoms of the disease include yellowish pigmentation of the skin, hepatosplenomegaly, complicated by splenic infarctions, skeletal abnormalities, including osteopenia, pathological fractures, bone infarctions, and corticomedullary osteonecrosis, pingueculae of the eyes, anemia, thrombocytopenia, and growth retardation. Type I Gaucher Disease does not involve any direct neurological features, and is therefore, known as the non-neuropathic form of the disorder.
The condition results from mutations in the GBA gene that codes for glucocerebrosidase, a lysosomal enzyme. This in turn leads to the accumulation of beta-glucocerebrosidase deposits in the the liver, spleen and bone marrow cells.