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Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. In people with this condition, the body is unable to break down a certain type of fat (lipid) called glucocerebroside. The features of type 1 Gaucher disease range from mild to severe and may appear early in life or in adulthood.
Gaucher disease, type 1 is a subtype of Gaucher disease.
The signs and symptoms of type 1 Gaucher disease include an enlarged liver and spleen (hepatosplenomegaly), low red blood cell counts (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), bone pain, and skeletal abnormalities. Brown spots at the edges of the cornea (the front surface of the eye) are also a feature of this disorder.
Type 1 Gaucher disease is known as a non-neuronopathic form of the disorder because it does not typically affect the nervous system; however, bone disease may lead to neurologic problems such as compression of the spinal cord.
Gaucher disease is seen in 1 in 50,000 to 100,000 people in the general population. Type 1 Gaucher disease is the most common form of this disorder. Type 1 occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This disease is seen in 1 in 500 to 1,000 people in the Ashkenazi Jewish population.
Mutations in the GBA gene cause Gaucher disease, type 1.
Mutations in the GBA gene lead to extremely low levels of an enzyme called beta-glucocerebrosidase. This enzyme usually breaks down a lipid called glucocerebroside into a sugar (glucose) and a simpler fat molecule. Without functional beta-glucocerebrosidase, glucocerebroside can build up in the body's cells. The abnormal accumulation of this substance damages tissues and organs, causing the characteristic features of Gaucher disease.
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder. Approximately 1 in 18 people of Ashkenazi Jewish descent carry one altered copy of the GBA gene.
Gaucher Disease - An in depth look at this disease and its causes, the different types, symptoms and treatment.
Genzyme Corporation - Learn about Gaucher disease, its causes and symptoms, treatment of Type 1 Gaucher disease with Cerezyme therapy, and ways to cope with the disease.