Enzyme Replacement Therapy

Enzyme replacement therapy, often abbreviated ERT, is a medical treatment that supplies a patient with an enzyme that their body lacks or produces too little of, typically by giving it as an intravenous infusion. It is used to treat several lysosomal storage diseases, including Gaucher disease, Fabry disease, MPS I, MPS II or Hunter syndrome, MPS VI, and Pompe disease, and it has also been used for severe combined immunodeficiency caused by adenosine deaminase deficiency. ERT does not fix the underlying genetic defect that causes the enzyme shortage, but it raises the level of the missing enzyme in the body, and other approaches to the same kinds of deficiency include substrate reduction therapy, gene therapy, and stem cell transplantation from bone marrow.