Enzyme replacement therapy

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. ERT has also been used successfully in the treatment of some (but not all) patients with Severe Combined Immunodeficiency resulting from an Adenosine deaminase deficiency (ADA-SCID). [1]

In Pompe disease the ERT replaces the deficient lysosomal enzyme acid alpha-glucosidase (GAA).[2] Digestive enzymes can be replaced orally.


The concept of enzyme replacement therapy was introduced in 1964 by Christian de Duve.[3] 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.[4]

See also


  1. Booth C, Hershfield M, Notarangelo L, et al. Management options for adenosine deaminase deficiency;proceedings of the EBMT satellite workshop (Hamburg, March 2006). Clin Immunol. 2007;123:139-147.
  2. "GAA: glucosidase alpha, acid". Genetics Home Reference.
  3. Neufeld EF (2006). "Chapter 10: Enzyme replacement therapy – a brief history.". In Mehta A, Beck M, Sunder-Plassmann G. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis. ISBN 978-1-903539-03-3. PMID 21290685.
  4. Poznansky MJ (1984). "Enzyme-albumin polymers. New approaches to the use of enzymes in medicine". Applied Biochemistry and Biotechnology. 10: 41–56. doi:10.1007/BF02783734. PMID 6395807.
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