In other species: dog , sheep

Possibly relevant human trait(s) and/or gene(s) (MIM number): 230800

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of glucocerebroside in various tissues, due to the lack of the enzyme beta-glucocerebrosidase, whose task is to break down glucocerebroside into its constituent molecules. The buildup is associated with large foamy macrophages (Gaucher's cells).