Gaucher disease type 2

Disease Overview

Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms usually develop by 3 months of age and include brain damage, seizures, abnormal eye movements, poor ability to suck and swallow, and enlargement of the liver and spleen.[2062][2063][14247] Many children die by 2 to 4 years of age.[2062][14247] Gaucher disease type 2 is caused by mutations in the GBA gene. It is inherited in an autosomal recessive pattern.[2063][14247] While enzyme replacement therapy is available for some types of Gaucher disease, children with Gaucher disease type 2 generally don’t respond to this treatment. Evaluation at a comprehensive center specializing in Gaucher disease and supportive care is appropriate for all affected children.[14247] 

Synonyms

• GD 2
• Gaucher disease, infantile cerebral
• Gaucher disease, acute neuronopathic type