Enzyme replacement therapy
Enzyme replacement therapy
Enzyme replacement therapy (ERT) is a medical treatment that replaces an enzyme that is missing or not working properly in the body. It is usually given as an intravenous (IV) infusion.
ERT is used for some lysosomal storage diseases, including Gaucher disease, Fabry disease, MPS I, MPS II (Hunter syndrome), MPS VI, and Pompe disease. It can also be used to treat certain cases of severe combined immunodeficiency (ADA-SCID) caused by an enzyme deficiency.
How it works
ERT increases the amount of the missing enzyme in the body, helping cells carry out their normal metabolic tasks and reducing the buildup of substances that cause disease symptoms. It does not fix the underlying genetic defect that causes the deficiency. The therapy can improve many symptoms, but it may not address all problems, especially those affecting the brain.
Administration
ERT is given through IV infusions. Infusion frequency varies by treatment and disease type, but it is commonly every week or every two weeks. Some treatments are given monthly.
Limitations and challenges
ERT is not a cure and requires lifelong treatment. It can be very expensive, with costs in the hundreds of thousands of dollars per year. The enzyme does not distribute evenly throughout the body, so some areas (like bone, lungs, and brain) may receive less of the enzyme, leaving some symptoms untreated. The body can also develop immune reactions to the enzyme, which can reduce effectiveness.
Other treatment options
Other approaches to enzyme or protein deficiencies include substrate reduction therapy (oral medicines that limit the production of harmful substances), gene therapy (delivering a correct gene to patients’ cells), and bone-marrow–derived stem cell transplantation. Each option has its own potential benefits and risks.
History
ERT was developed in the 1960s by Christian de Duve and Roscoe Brady. Early research and animal models were conducted at the University of Alberta. ERT entered clinical use in 1991 after approval for Gaucher disease. Initial therapies were derived from human placenta, but now ERTs are produced using various cell systems, including human, animal, and plant cells.
See also
- Protein replacement therapy
This page was last edited on 1 February 2026, at 22:03 (CET).