Different and unusual presentation of Gaucher's disease with the same mutation in the glucocerebrosidase enzyme (F266L) in two patients: a case report.

Abstract excerpt

BACKGROUND: Gaucher is an autosomal recessive inherited lysosomal storage disorder. The incidence of this disease is rare with a global estimate of around 1 in 57,000 to 1 in 75,000. Gaucher's disease is caused by a mutation in the glucocerebrosidase gene. Common symptoms of this disease include hepatosplenomegaly, moderate neurological symptoms, and late‑onset skeletal alterations. However, Gaucher can sometimes...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cough
• Share to Gaucher Disease
• Share to Glucosylceramidase