• Deficient activity of glucocerebrosidase, the enzyme responsible for cleaving glucosylceramide
• Progressive accumulation of glucosylceramide substrate in macrophage lysosomes
• Hypertrophy of the lysosomal system and cellular damage and dysfunction1,2

Variable Presentation and Symptoms

• Type 1 Gaucher disease varies from person to person3
• Some degree of hepatosplenomegaly, anemia, and thrombocytopenia3

Therapeutic Choices

• Enzyme replacement therapy (ERT)
• Splenectomy
• Bone marrow transplantation
• Joint replacement

A totally different therapeutic approach—substrate reduction therapy (SRT)—
is available for adults with mild-to-moderate type 1 Gaucher disease for whom
ERT is not an option.

1. Winchester B, Vellodi A, Young E. The molecular basis of lysosomal storage diseases and their treatment. Biochem Soc Trans. 2000;28:150–154. Review.
2. Lachmann RH, Platt FM. Substrate reduction therapy for glycosphingolipid storage disorders. Expert Opin Investig Drugs. 2001;10:455–466. Review.
3. Braunwald E, Fauci AS, Kasper DL, Hauser SL, Longo DL, Jameson JL, eds. Harrison’s Principles of Internal Medicine. Vol 2. 15th ed. New York: McGraw-Hill; 2001:2276–2281.