Gaucher Disease Research Paper

Gaucher disease is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. Sphingolipids constitute a diverse array of lipids in which fatty acids are linked through amide bonds to a long-chain base, structurally they form the building blocks of eukaryotic membranes. Gaucher disease occurs when a enzyme is deficient. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages (mononuclear leukocytes). Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow. It is also one of the most common lysosomal storage diseases. It should be considered in any child or adult with an unexplained splenohepatomegaly and cytopenia which are seen in the three types of gaucher disease. …show more content…
The enzyme acts on the substrate glucocerebroside which is a component of the cell membrane. In the normal lysosome, protein saposin C presents glucocerebroside to GBA which activates the enzyme. This enzyme is responsible for hydrolytic breakdown of glucosylceramide to glucose and ceramide. Deficiency of the enzyme leads to accumulation of glucosylceramide and other glycolipids in the lysosomes of macrophages, primarily in the spleen, liver, bone marrow, brain, osteoclasts and less often the lungs, skin, kidneys, conjunctivae and heart. The decimated form of glucosylceramide, glucosylsphingosine, is elevated in neuropathic disease and correlates more with phenotype severity compared to