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.
Consensus Conference: A reappraisal of Gaucher disease - diagnosis and disease management algorithms
Gaucher's Disease macrophages look like crumpled tissue paper. This is the most common lysosomal storage disease. Deficient Beta-glucocerebrosidase leads to accumulated glucocerebroside. Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease. Autosomal Recessive