Understanding Gaucher Disease Type 3

Gaucher Disease Type 3 (GD3) is a rare genetic disorder caused by mutations in the GBA gene, resulting in glucocerebrosidase enzyme deficiency. This leads to harmful accumulation of glucocerebroside in cells, affecting the spleen, liver, bones, and nervous system. 

GD3 is the chronic neuronopathic form of Gaucher disease, characterized by: 
Systemic Symptoms: 

• Enlarged liver and spleen
• Bone disease and anemia
• Blood abnormalities 

Neurological Symptoms: 

• Horizontal gaze palsy (eye movement difficulties)
• Progressive myoclonic epilepsy
• Ataxia and coordination problems
• Variable cognitive impairment 

Unlike the acute Type 2, GD3 progresses more slowly, typically manifesting in childhood with significant variability in severity. Current treatments include enzyme replacement therapy (ERT) for systemic symptoms and supportive care for neurological manifestations.

This resource provides healthcare professionals with essential information on GD3 diagnosis, clinical management, and the latest research developments, supporting Sanofi's commitment to rare disease communities and advancing patient care.