Enzyme replacement therapy

Enzyme Replacement Therapy

Enzyme replacement therapy (ERT) is a medical treatment used for genetic disorders that are caused by a deficiency of specific enzymes. Pronounced as /ˈɛnzaɪm rɪˈpleɪsmənt θɛrəpi/, the term originates from the English words "enzyme" (a type of protein that speeds up chemical reactions in a living organism), "replacement" (to provide a substitute or equivalent), and "therapy" (treatment intended to relieve or heal a disorder).

Overview

Enzyme replacement therapy involves the intravenous administration of enzymes in an attempt to reduce the impact or slow down the progression of certain diseases. This therapy is primarily used for diseases that are caused by the lack of a functional enzyme, such as Lysosomal storage diseases (LSDs) including Gaucher's disease, Fabry disease, and Pompe disease.

Mechanism of Action

The mechanism of action in enzyme replacement therapy involves the replacement of a missing or non-functional enzyme with a functional one. The replacement enzyme is typically a recombinant form of the enzyme that is missing or defective in the patient. The recombinant enzyme is designed to perform the same function as the missing or non-functional enzyme, thereby reducing the symptoms and progression of the disease.

Risks and Side Effects

Like all medical treatments, enzyme replacement therapy can have side effects. These can include allergic reactions, fever, headache, and nausea. In some cases, the body's immune system may develop antibodies against the replacement enzymes, reducing their effectiveness.

Related Terms

External links

Medical encyclopedia article on Enzyme replacement therapy
Wikipedia's article - Enzyme replacement therapy

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