Gaucher disease is the most prevalent lysosomal storage disorder and results from the inherited deficiency of the enzyme glucocerebrosidase (GBA; GCase). This enzyme deficiency causes accumulation of the lipid glucosylceramide in macrophages, producing Gaucher cells.Symptoms can present at any age. Although type 1 Gaucher disease is more common among the Ashkenazi Jewish population it occurs in all ethnic groups. There is a wide spectrum of illness severity for type 1 Gaucher disease. Affected individuals can be asymptomatic or may have severely debilitating symptoms, including liver and spleen enlargement, skeletal degeneration, anemia, low platelet count and easy brusibility.
The macrophage origin of Gaucher cells has had major implications for development of targeted enzyme replacement therapy, as well as gene and cellular therapeutic strategies. Type 1 Gaucher disease is an unusually attractive candidate for our therapy because the target cell is the macrophage, and because there is no primary central nervous system involvement.