Gaucher Disease: Glucocerebrosidase Deficiency, Enzyme Replacement Therapy & Genetics
Clinical Definition Gaucher Disease is an autosomal recessive lysosomal storage disorder caused by a deficiency in the lysosomal enzyme beta-glucocerebrosidase (also known as acid beta-glucosidase). This enzymatic defect leads to the progressive accumulation of the glycolipid substrate glucocerebroside (glucosylceramide) primarily within the lysosomes of macrophages. These lipid-laden macrophages, termed “Gaucher cells,” infiltrate the reticuloendothelial system…