Genetics & Epidemiology

Patient story Gaucher

Gaucher disease is an autosomal recessive disorder, which means there is a 25% chance that the child will develop Gaucher disease when both parents are carrier of an affected geneAlthough a rare disease, Gaucher disease is one of the most common lysosomal storage disorders, alongside Fabry disease.


The classical method for diagnosing Gaucher disease was detection of the lipid-engorged Gaucher cell in bone marrow aspirate, liver biopsy or a surgically removed spleen.