Ensüümiasendusravi

Ensüümasendusravi, also known as enzyme replacement therapy (ERT), is a medical treatment used for certain genetic disorders characterized by a deficiency in a specific enzyme. These disorders, often referred to as inborn errors of metabolism or lysosomal storage diseases, occur when a gene mutation prevents the body from producing a functional enzyme. This enzyme deficiency leads to the accumulation of specific substances within cells, causing cellular damage and disease progression.

The principle behind ensüümasendusravi is to administer a functional version of the missing enzyme to the patient. This enzyme is typically produced through recombinant DNA technology. Once infused, the exogenous enzyme enters the bloodstream and travels to the affected cells, where it can bind to the accumulating substrate and facilitate its breakdown or removal. This process aims to reduce the buildup of toxic substances, alleviate cellular dysfunction, and potentially slow or reverse the progression of the disease.

Ensüümasendusravi is administered intravenously at regular intervals, with the frequency depending on the specific enzyme and condition being treated. While ERT can significantly improve the quality of life and manage symptoms for many patients, it is not a cure and requires lifelong treatment. The effectiveness and potential side effects of ensüümasendusravi vary depending on the individual, the specific enzyme deficiency, and the stage of the disease. Ongoing research continues to explore new enzymes, delivery methods, and ways to improve the efficacy and accessibility of this therapeutic approach.