1. Pathway and Pathophysiology



Gaucher Disease is what we call a  sphingolipidosis. These are the sequential catabolic steps in the degradation of complex glycosphingolipids as cells turn over in the mononuclear phagocyte system, and you get sequential breakdown of this complex glycosphingolipids by lysosomal​ ​hydrolases​ ​as shown here until you get to the simplest glycosphingolipid glucosylceramide. In Gaucher Disease that is the enzyme that is defective, and it leads to the manifestations of Gaucher Disease. Gaucher Disease is also connected to the same pathway where defects in Tay-Sachs  Disease, Fabry Disease and Niemann Disease and others occur.




b_Inter_S-Add.svg  b_Inter_S-Case.svg  b_Inter_S-Readings.svg


b_com_ShareGaucher.svg b_Com_Host.svg 




get updates