Gaucher's disease is the most common of the lysosomal storage disorders. It is carried on chromosome 1 and is inherited in an autosomal recessive pattern.
Ashkenazi Jews are most affected.
Features of Gaucher’s disease include:
- Hepatic fibrosis
- Pathological fractures
- Enzyme replacement therapy
OMIM: Gaucher disease type I. Available at http://omim.org/entry/230800?search=gaucher&highlight=gaucher
OMIM: Gaucher disease type II. Available at http://omim.org/entry/230900?search=gaucher&highlight=gaucher