Abstract

Gaucher disease (GD) is an autosomal recessive inborn error of metabolism resulting from a deficiency in β-glucocerebrosidase (GBA) activity that leads to the accumulation of glucocerebroside in macrophages in multiple organs, such as the bone marrow, liver, spleen, and brain. GD can be classified into three clinical types: type 1 (non-neuropathic form, OMIM #230800); type II (acute neuropathic form, OMIM #230900); and type III (chronic neuropathic form, OMIM #231000). Type III is the subacute form of neuropathic GD. The best available treatment for GD is long-term enzyme (imiglucerase) replacement therapy (ERT) performed every two weeks. This report describes the long-term clinical course of a patient with type III GD who was treated with ERT for 18 years.