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Currently, there is no definitive cure for Fabry disease. However, treatments are available to manage symptoms and slow disease progression, primarily through enzyme replacement therapy (ERT) and oral chaperone therapy.
Enzyme Replacement Therapy (ERT): This therapy involves administering synthetic enzymes that mimic the function of the deficient alpha-GAL enzyme in the body. By replacing the missing enzyme, ERT aims to prevent the accumulation of harmful fatty substances, thereby mitigating the disease's effects.
Oral Chaperone Therapy: This treatment utilizes small molecules called chaperones. These chaperones help to stabilize and correct certain misfolded alpha-GAL enzymes, improving their function. The corrected enzymes can then more effectively break down fatty substances, reducing disease manifestations.
How is Fabry Disease treated?
Enzyme Replacement Therapy (ERT): This therapy involves administering synthetic enzymes that mimic the function of the deficient alpha-GAL enzyme in the body. By replacing the missing enzyme, ERT aims to prevent the accumulation of harmful fatty substances, thereby mitigating the disease's effects.
Oral Chaperone Therapy: This treatment utilizes small molecules called chaperones. These chaperones help to stabilize and correct certain misfolded alpha-GAL enzymes, improving their function. The corrected enzymes can then more effectively break down fatty substances, reducing disease manifestations.