Enzyme replacement therapy

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Enzyme replacement therapy (ERT) is a medical treatment replacing an enzyme in patients in whom that particular enzyme is deficient or absent. Usually this is done by giving the patient an intravenous (IV) infusion containing the enzyme. Enzyme replacement therapy is currently available for some lysosomal diseases: Gaucher disease, Fabry disease, MPS I, MPS II (Hunter syndrome), MPS VI and Glycogen storage disease type II. Enzyme replacement therapy does not correct the underlying genetic defect, but increases the concentration of enzyme in which the patient is deficient.

In Pompe disease the ERT replaces the deficient lysosomal enzyme acid alpha-glucosidase (GAA)[1] Digestive enzymes can be replaced orally.


The concept of enzyme replacement therapy was introduced in 1964 by Christian de Duve.[2] Leading work was done on this subject at the Department of Physiology at the University of Alberta by Mark J. Poznansky and Damyanti Bhardwaj, where a model for enzyme therapy was developed using rats.[3]


  1. ^ http://ghr.nlm.nih.gov/gene/GAA
  2. ^ Neufeld, EF; Mehta, A; Beck, M; Sunder-Plassmann, G (2006). "Enzyme replacement therapy – a brief history". PMID 21290685. 
  3. ^ Enzyme-Albumin Polymers: New Approaches to the Use of Enzymes in Medicine published in Artificial Cells, Blood Substitutes, and Biotechnology, Volume 15, Issue 4 January 1987, pages 751 - 774