Gaucher disease, type 1 Treatment and Symptoms Acid beta-glucosidase deficiency; GBA deficiency; Non-Neuronopathic Gaucher Disease

Gaucher disease is an inherited disorder in which the body cannot break down a lipid called glucocerebroside. Type 1 is the most common form of Gaucher disease. Gaucher disease, type 1 is a subtype of Gaucher disease. The signs and symptoms of type 1 Gaucher disease may appear early in life or in adulthood. They include an enlarged spleen and liver, low red blood cell counts (anemia), bruising due to a low number of blood platelets, bone pain, and skeletal abnormalities. Brown spots at the edges of the cornea (the front surface of the eye) are also a feature of type 1 Gaucher disease. Although this type has no signs of brain involvement, bone disease may lead to neurologic problems such as compression of the spinal cord.