Disease
Gaucher Disease
Gaucher disease
An inherited lysosomal disorder associated with reduced glucocerebrosidase activity and accumulation of its lipid substrate.
Overview
EXPLORE BY LEVELGaucher disease is usually caused by changes in both copies of GBA1. The affected A protein that speeds up a chemical reaction in a cell. normally helps lysosomes break down a lipid, which can build up when A protein that speeds up a chemical reaction in a cell. activity is low.
Quick Facts
AT A GLANCEExplore nextMolecular medicine
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Research Claims
Gaucher disease spans clinical subtypes with variable visceral, skeletal, and neurologic involvement. Peripheral enzyme delivery does not automatically correct CNS disease because tissue access differs.