Gaucher disease, type 3 |
Norrbottnian Gaucher disease; Subacute Neuronopathic Gaucher Disease; Type 3 Gaucher Disease |
Gaucher disease is an inherited disorder in which the body cannot break down a lipid called glucocerebroside. Type 3 is characterized by mild involvement of the central nervous system, a slower, more favorable course than type 2, and a particular mutation in the GBA gene. Gaucher disease, type 3 is a subtype of Gaucher disease. The signs and symptoms of type 3 Gaucher disease usually first appear in childhood or adolescence. They include an enlarged spleen and liver, low red blood cell counts (anemia), bruising due to a low number of blood platelets, and bone pain. The central nervous system is also affected, leading to poor coordination of movements (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.
From the WEST scientific·clinical |
From the EAST traditional·alternative |
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Gaucher disease, type 3 Other1 of 1
Gaucher disease, type 3
... Gaucher disease is an inherited disorder in which the body cannot break down a lipid called glucocerebroside. Type 3 is characterized by mild involvement of the central nervous system, a slower, more ...
Source: Genetics Home Reference
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Gaucher disease, type 3 Articles
- Gaucher disease, type 3
... Gaucher disease is an inherited disorder in which the body cannot break down a lipid called glucocerebroside. Type 3 is characterized by mild involvement of the central nervous system, a slower, more ...

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