Reverse Fabry in Females Reveal Hidden Path to Relief

The Hidden Path to Relief

The concept of "Reverse Fabry" in females refers to the potential to mitigate symptoms through targeted therapies that address the root cause of the enzyme deficiency. Enzyme replacement therapy (ERT) has been a cornerstone treatment, aiming to supplement the deficient enzyme and reduce the buildup of harmful substances³.

Moreover, recent studies are exploring the benefits of pharmacological chaperones, which are small molecules designed to stabilize the defective enzyme and improve its function. This approach is particularly promising for females, as it can enhance the residual enzyme activity that the normal X chromosome provides⁴.