Gaucher disease

Gaucher disease is a very rare autosomal recessive genetic disorder caused by mutations in the glucocerebrosidase (GBA) gene, leading to the accumulation of lipids in the lysosomes of macrophages in the liver, spleen, bones, and central nervous system, which in turn causes lesions in the affected tissues and organs. This disease is common in children and adolescents, with a higher incidence in those under 7 years old. Based on whether the nervous system is involved, Gaucher disease can be mainly divided into non-neuropathic type (Type I) and neuropathic types (Type II and Type III). The main symptoms include growth and development lagging behind peers, progressive hepatosplenomegaly, ichthyosis-like skin changes, neurological disorders, and fractures.