Infantile Gaucher Disease
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📋Overview
Infantile Gaucher disease is a severe form of Gaucher disease, a genetic lysosomal storage disorder caused by deficiency of the enzyme glucocerebrosidase. This leads to accumulation of glucocerebroside in various organs. The infantile form corresponds to type 2 Gaucher disease, characterized by early onset and rapid neurological decline. The term 'Infantile Gaucher Disease' is a legacy label often referring to type 2 Gaucher disease, which is the acute neuronopathic variant.
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