Gaucher disease

Overview

Gaucher disease is a lysosomal storage disorder caused by pathogenic variants in the GBA1 gene, leading to deficient glucocerebrosidase activity and accumulation of glucocerebroside in macrophages. Common features include hepatosplenomegaly, anemia, thrombocytopenia, bone pain, and skeletal disease; neuronopathic forms can cause neurologic impairment. It is rare, with the non-neuronopathic type 1 form being the most common globally, and several enzyme replacement and substrate reduction therapies are documented.

Available Treatments (2)

Classification & Codes