Gaucher disease is an autosomal recessive disorder wherein both copies of the gene that encodes for a lysosomal enzyme called beta-glucocerebrosidase are mutated. The mutation makes beta-glucocerebrosidase unable to efficiently break down ... Read more

Cardiovascular Gaucher disease (CGD), also known as type 3C Gaucher disease, is a type of Gaucher disease caused by a specific mutation in the GBA gene, which encodes for an enzyme called glucocerebrosidase. ... Read more