Endocrine Abstracts

Gaucher disease (GD) is a rare, genetic, autosomal recessive lysosomal storage disease with multi-system manifestations caused by a deficiency of the lysosomal enzyme glucocerebrosidase, which leads to an accumulation of its substrate glucosylceramide (glucocerebroside) in macrophages of various tissues with an inflammatory response and a release of cytokines. In general population its incidence is approximately 1/40 000 to 1/60 000, rising to 1/800 in Ashkenazi Jews. Clinical...