Enzimszubsztitúció

Enzimszubsztitúció, often translated as enzyme replacement therapy (ERT), is a medical treatment aimed at compensating for a deficiency or absence of a specific enzyme within the body. Many genetic disorders arise from mutations that lead to the production of a non-functional or absent enzyme. This deficiency can cause the buildup of toxic substances or the lack of essential products, leading to a wide range of symptoms and severe health consequences.

ERT involves administering a functional version of the deficient enzyme, typically intravenously. This exogenous enzyme can then perform the function of the missing enzyme, helping to reduce the accumulation of harmful metabolites or to produce necessary substances. The goal is to slow down or halt the progression of the disease, alleviate symptoms, and improve the patient's quality of life.

Currently, ERT is primarily used for certain lysosomal storage disorders, such as Gaucher disease, Fabry disease, and Pompe disease. These conditions are characterized by the impaired function of enzymes responsible for breaking down specific molecules within the cell's lysosomes. Without functional enzymes, these molecules accumulate and damage various tissues and organs.

The development and administration of ERT require significant scientific and technological advancements, including recombinant DNA technology to produce the enzymes and sophisticated delivery methods. While ERT can be highly effective in managing symptoms and improving outcomes for many patients, it is not a cure. The treatment is lifelong, costly, and may not fully reverse existing organ damage. Ongoing research continues to explore new targets, more efficient delivery systems, and potential alternative therapies.