Chapter 5. Prenatal Diagnosis of Inherited Metabolic Diseases: Principles, Pitfalls, and Prospects

Applied enzymology

“…Another therapeutic application of enzymes, also very much in the experimental stage, is the replacement of defective enzyme activity by addition of an active enzyme obtained from another source (5). The concept is similar to hormone replacement therapy, which is a common proce-dure.…”

“…These products are further catabolized in a variety of metabolic reactions, fj-Glucosidase, which is normally stored in the lysozomes, is not active in patients with Gaucher's disease. Some success has been observed in experiments that administer /Tglucosidase to patients (5). A major difficulty in enzyme replacement therapy is the requirement to direct the enzyme to the specific target tissue and to subcellular organelles.…”

“…One approach is to bind the enzyme to a cell-specific receptor molecule that allows that cell to internalize the complex. Another method is to encapsulate the enzyme in some type of vesicle such as a liposome or erythrocyte (5). Many other lysosomal storage diseases such as Tay-Sachs and Fabry's disease are also under study for enzyme replacement therapy.…”