Edit page | Page history | Printable version

Familial splenic anaemia --> gauchers disease

(Science: disease) a chronic congenital disease of lipid metabolism caused by a deficiency of the beta-glucocerebrosidase enzyme. The defect is most common in Ashkenazi jews. Clinical features are hepatosplenomegaly (enlargement of liver and spleen) and in severe early onset forms of the disease, with neurological dysfunction.

Inheritance: autosomal recessive.