Gaucher disease (GD) is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase due to mutation of its gene GBA1 results in the harmful accumulations of lipids, specifically glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen, liver, and brain.

Type 2 is the most severe subtype of GD, characterized by life-threatening neurological complications, like respiratory distress, besides the symptoms like abnormally enlarged liver and/or spleen often seen in Type 1 and 3.