Gaucher's diseasemedical dictionary


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.

(27 Sep 1997)

gaucher disease, Gaucher disorder, Gaucher, Philippe < Prev | Next > gaucher's disease, type 1, gaudery, gaudy

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