Disease Information

Gaucher disease is a lysosomal storage disorder caused by a mutation in the gene responsible for the production of the enzyme ß-glucocerebrosidase. This lysosomal enzyme normally breaks down glycosphingolipids derived from physiological turn-over of membranes, particularly of blood cells. More than 300 mutant alleles have been identified.[1] As a result of mutation, ß-glucocerebrosidase activity is insufficient to prevent accumulation of a glycosphingolipid called glucocerebroside in the lysosomes of cells, mainly of the tissue macrophage system. Glucocerebroside-engorged macrophages, termed Gaucher cells, accumulate in organs. Gaucher cell storage leads to a further cascade of physiopathologic events, including the elicitation of a chronic inflammatory and hypermetabolic state. Clinically, this may translate into infiltration with masses of Gaucher cells of the organs of the reticuloendothelial system with secondary consequences such as hepatomegaly, splenomegaly, thrombocytopenia, anemia, skeletal pathology, pulmonary hypertension and interstitial lung disease, and—in a minority—central neurological involvement.[2]

Recognizing the signs and symptoms of Gaucher is critical as early diagnosis and intervention are key.


1. Beutler E, Gelbart T, Scott C. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 2005;35:355-64.

2. Grabowski G, Petsko G, Kolodny E. Gaucher disease. In: Beaudet A, Sly W, Vogelstein B, Valle D, Kinzler K, Antonarakis S, et al., editors. The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2010. p. Available at www.ommbid.com.

3. Grabowski G. Gaucher disease: Enzymology, genetics, and treatment. In: Harris H, Hirshchorn K, eds. Advances in Human Genetics. New York, NY: Plenum Press; 1993;21: 377-441.

Gaucher Cells

Gaucher cells accumulate and displace healthy normal cells in bone marrow and organs such as the liver and spleen. This accumulation causes a host of signs, including skeletal deterioration, anemia, and organ dysfunction.

Gaucher Registry

For more than a decade, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry »