entsyymikorvaushoitoon

Entsyymikorvaushoito (enzyme replacement therapy, ERT) is a medical treatment used to correct a deficiency of a specific enzyme in the body. Many genetic disorders result from mutations in genes that code for enzymes, leading to a lack of functional enzyme or an enzyme that does not work properly. This deficiency can cause a buildup of toxic substances or a lack of essential substances, leading to various symptoms and health problems.

Enzyme replacement therapy aims to replenish the missing or deficient enzyme. This is typically achieved by administering a manufactured, functional enzyme intravenously or through other routes, depending on the specific therapy and condition. The replacement enzyme circulates in the bloodstream and can be taken up by cells, where it can then perform its intended function, such as breaking down accumulated substances or producing necessary molecules.

ERT is a treatment for several rare genetic diseases, including Gaucher disease, Fabry disease, Pompe disease, and Hunter syndrome. The effectiveness of enzyme replacement therapy can vary depending on the disease, the severity of symptoms, and how early the treatment is initiated. While it can significantly improve quality of life and slow disease progression for many patients, it does not always cure the underlying genetic defect. The treatment often requires lifelong administration and can be costly. Ongoing research continues to explore new enzyme targets, improved delivery methods, and alternative therapies for these conditions.