enzimpótlással

Enzimpótlással refers to the medical treatment of enzyme deficiencies. Enzymes are proteins that catalyze biochemical reactions within the body, and a lack of a specific enzyme can lead to a buildup of harmful substances or a deficiency of essential products. This deficiency can be caused by genetic mutations, diseases, or other factors. Enzimpótlással aims to correct these deficiencies by providing the missing or deficient enzyme.

There are several ways enzimpótlással can be administered. One common method is enzyme replacement therapy (ERT), where the functional enzyme is introduced into the patient's body, typically through intravenous infusion. This therapy is particularly used for rare genetic disorders like Gaucher disease and Fabry disease, where specific enzymes are absent or non-functional. ERT helps to reduce the accumulation of undigested materials in cells, thereby alleviating symptoms and slowing disease progression.

Another approach involves substrate reduction therapy, which aims to decrease the production of the substance that the deficient enzyme normally breaks down. This can be achieved through medications that inhibit the synthesis of these substances. Gene therapy is also being explored as a potential form of enzimpótlással, aiming to introduce functional genes that can produce the missing enzyme within the patient's own cells. The development and application of enzimpótlással are ongoing, with research focused on improving efficacy, accessibility, and expanding its use to a wider range of conditions.