[Gaucher disease].

Abstract excerpt

Gaucher disease, a condition transmitted by autosomal recessive inheritance, results from a genetic defect in beta-glucosidase, an enzyme which degrades sphingolipids. Deficiency in beta-glucosidase leads to accumulation of its substrate, glycosylceramide, in macrophages and, in the more severe cases, in neurons. Clinically, splenomegaly, hepatomegaly, bone destruction, cytopenia, and in some cases, central...

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