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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. Type 3 Gaucher disease is characterized by involvement of the central nervous system (the brain and spinal cord) and a slower, more favorable course than type 2.
Gaucher disease, type 3 is a subtype of Gaucher disease.
The signs and symptoms of type 3 Gaucher disease usually appear in childhood or adolescence and vary widely among affected individuals. Characteristic features include an enlarged liver and spleen (hepatosplenomegaly), low red blood cell counts (anemia), bruising due to a low number of blood platelets (thrombocytopenia), and bone pain. Type 3 is known as the chronic neuronopathic form of the disease because the central nervous system is also affected, causing loss of muscle coordination (ataxia), seizures, paralysis of the eye muscles, and dementia. People with type 3 Gaucher disease can live into adulthood, but may have a shortened life span.
This rare condition affects fewer than 1 in 100,000 births. Type 3 is also known as the Norrbottnian type of Gaucher disease because many cases have been reported in the province of Norrbotten in northern Sweden.
Mutations in the GBA gene cause Gaucher disease, type 3.
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 both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Gaucher Disease - An in depth look at this disease and its causes, the different types, symptoms and treatment.
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