Gaucher's disease or
Gaucher disease (GD) is a
genetic disorder in which
glucocerebroside (a
sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by
bruising,
fatigue,
anemia, low
blood platelet count and enlargement of the
liver and
spleen, and is caused by a hereditary deficiency of the enzyme
glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages (
mononuclear leukocytes). Glucocerebroside can collect in the
spleen,
liver,
kidneys,
lungs,
brain, and
bone marrow.