Gaucher disease (GD) is a lysosomal storage disorder (LSD) which is inherited as an autosomal recessive condition with an estimated birth frequency of 1:50,000 to 1:100,000 in the European population with a higher incidence of 1:500 to 1:1000 live births in the Ashkenazi Jewish population
Type 1 | Type 2 | Type 3 | |
Phenotype | Accounts for 95% of GD cases. Diverse phenotypes among patients with identical GBA mutations manifests as variations in the overall severity of the disease, as well as in the pattern of organ involvement Childhood or adult onset varying from asymptomatic to life threatening symptoms. | Accounts for 1% of GD cases. Typically neonatal-infantile onset with a rapidly progressive fatal course. The median age of death is 9 months | Accounts for 4% of GD cases. Typically infantile-childhood onset; sub-acute and slowly progressive may result in death during the second decade although some have survived to their 4th decade |
Reference:
Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page