Lysosomal Storage Disease - Paris Brown

Name of Disease: Lysosomal Storage Disease Name/Function of Transport Protein/Enzyme: The enzyme that is missing would serve the function of moving other materials within the organism Etiology: Lysosomal storage disease (or LCDs) are a groupd nor approximately 50 very rare inherited metabolic disorders that result from defects in lysosomal function. The diseases all result when the lysosome malfunctions. nThis is usually a consequence of deficiency of a single enzyme required for the metabolism of lipids, mucopolysaccharides (group of genetic disorders), or glycoproteins (sugar coating proteins). The lysosome is commonly referred to as the cell's recycling center because its processes unwanted material into substances that the cell can utilize. Lysosomes break down this unwanted matter via enzymes (highly specialized proteins essential for life survival). Lysosomal disorders are triggered when a particular enzyme exists in too small amount or is not present at all. When this happens, the excess products destined for breakdown and recycling are stored in the cell. Treatment: As of today, there are no cures for lysosomal storage diseases. Treatmenbts are mostly symptomatic or caters to specific pains and what not. Bone marrow transplantation and enzyme replacement therapy have been tried with some small success. Also, umbilical cord blood transplantation is being done at some specialty centers for some of these diseases. That is a method used to decrease the accuumulation of storage material. CHaperone therapy is also being evaluated and examined for possible cure. It is a technique used to stabalize the defective enzymes prouduced by the body. wont allow me to insert my images, may i show you the ones I found in class?