Type A and B is called Acid Sphingomyelinase Deficiency, It is found in special parts within cells called lysosomes and is made to metabolize a lipid called sphingomyelin. If ASM is absent or not working properly then sphingomyelin cannot be metabolized correctly and is stored within the cell, causing cell death and the malfunction of major organ system.Unfortunately there is no current cure and sadly there is …show more content…
Patients are not able to metabolize cholesterol and other lipids correctly within the cell. Excessive amounts of cholesterol gather within the liver and spleen and mass amounts of other lipids gather in the brain. There is considerable variation in when Type C symptoms first appear and in the process of the disease. Symptoms may appear as early as a few months of birth or as late as adulthood. There are fewer cases of Type C right around 500 to be exact which in return makes type A and B a main priority as we speak.
Another disturbing this about niemann's disease is that there are no treatments there's not even any for if you want to be a test dummy to see if anything remotely works. Besides the treatments to fix some of your symptoms but that is all. The symptoms for type A are liver and spleen problems, heart and or respiratory problems. If you have type B having a bone marrow transplant has proven to have the most effect in helping fix it if you don't wish to do that then an enzyme replacement therapy is the next best thing. If you have Type C there is no FDA approved treatments or treatments for your