Gaucher disease is an inherited autosomal disease that results from mutations in the GBA gene providing instructions for making an enzyme ?-glucosidase (or glucocerebrosidase). Glucocerebrosidase is a lysosomal hydrolase digesting glycolipids. Due to mutations in the GBA gene the activity of beta-glucocerebrosidase impairs, and glucosylceramides begin to accumulate in various cells (of the spleen, liver, bone marrow, etc.). When the buildup of glucosylceramides reaches certain level, manifestation of Gaucher disease begins.
Clinical forms of the disease differ depending on whether or not the symptoms of central nervous system impairment are present, its severity and the age of onset (2).Being a lysosomal enzyme, the levels of acid phosphatase are affected by osteoclast function. Osteoclasts secret special enzyme isoenzyme 5b that is a specific marker of bone resorption. Gaucher diseases is characterized by increased bone resorption and lytic lesions that result in elevated ACP levels (3).Characteristic feature of Gaucher is “Gaucher cells” that are glucosylceramide-laden macrophages.
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These macrophages occur due to the accumulation of glucosylceramide in cells derived from monocyte-macrophage origin, as it was mentioned above. “Gaucher cells” can be found in different organs but primarily in the spleen, liver, bone marrow, and lymph nodes. They cause enlargement of these organs, particularly the spleen 9spleenomagaly) and liver (hepatomegaly). Pancytopenia as a result of these processes is also believed to be due to the replacement of bone marrow by “Gaucher cells