Question

Distinguish among enzyme replacement therapy, substrate reduction therapy, and pharmacological chaperone therapy.

Short answer

Enzyme replacement therapy involves providing the body with a missing or non-functioning enzyme, usually by infusion. In comparison, substrate reduction therapy targets a different enzyme to indirectly reduce the substrate of the defective enzyme, helping to balance the levels in the body. Pharmacological chaperone therapy uses molecules to bind to an unstable, but functional enzyme. This stabilization helps the enzyme to fold correctly and perform its function.

Step-by-step solution

Understanding Enzyme Replacement Therapy

Enzyme replacement therapy involves supplying the body with enzymes it can't produce for itself due to genetic disorders. This process can help replace the missing or non-working enzyme with a functioning one, typically given by infusion.

Understanding Substrate Reduction Therapy

Substrate reduction therapy is an approach where a different enzyme is targeted which indirectly reduces the substrate of the defective enzyme, helping to balance the levels in the patient's body. The goal is to decrease the production of the harmful substance that the body can't break down due to enzyme deficiency.

Understanding Pharmacological Chaperone Therapy

Pharmacological chaperone therapy involves small molecules that bind to the patient's unstable, but otherwise potentially functional enzyme, stabilizing it and helping it to perform its function. The aim is to facilitate the correct folding and stability of the defective enzyme, allowing it to reach its site of action and carry out its normal function.