Infantile Gaucher Disease

📋Overview

Infantile Gaucher Disease, also referred to as type 2 Gaucher disease, is an acute neuronopathic lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase. This deficiency leads to the accumulation of glucocerebroside within various tissues, representing the most severe form of the condition.

The condition is characterized by its early onset during infancy and a clinical course involving rapid neurological decline. It is distinguished from other forms by the primary involvement of the central nervous system in addition to systemic manifestations.