Gaucher disease

Gaucher disease (GD) is the most common form of lysosomal storage disease (LSD). It is an autosomal recessive genetic disease that causes abnormal glucocerebrosides in the reticuloendothelium. Intracellular accumulation. French doctor Pete Phillipe Gaucher first reported in 1882, 50 years later Aghion reported that Gaucher disease was due to the accumulation of glucocerebroside (GC) in the monocyte-macrophages of the liver, spleen, bone and central nervous system Caused by. Brady et al. Found in 1964 that the accumulation of glucocerebrosidase was caused by beta; -glucosidase-glucerebrosidase (GBA) deficiency, which is a diagnosis of Gaucher disease. And treatment provided the theoretical basis.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.