| Diagnosis of Fabry disease in males includes the detection of decreased α-galactosidase A activity and in females the determination of a disease-causing mutation. |
| Current treatment options of enzyme replacement therapy and chaperone therapy can improve disease burden and quality of life. |
| New therapy options include modified enzyme replacement therapy, substrate reduction therapy, and gene therapy. |
Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.