Response to Case 1: Fabry disease.
Enzyme replacement refers to the medical treatment that is given to patients whose bodies lack particular enzymes. It involves replacement of the deficient enzymes. A patient is administered with intravenous (IV) infusion which contains the deficient enzyme. This procedure has currently been widely adopted in the treatment of various diseases associated with enzyme deficiency such as Fabry diseases, Gaucher diseases, MPS I, MPS IV and Glycogen Storage disease II (Cannon 3). An example of drug that could be administered against Fabry disease is Fabrazyme. The Fabrazyme infusion reduces the level of the substance known as globotriosylceramide (GL-3), which often ...