Definition
Fabry disease is a lysosomal storage disease characterized by pain, angiokeratomas, and multiorgan involvement, resulting from alpha-galactosidase A enzyme deficiency.
Symptoms
- Burning pain attacks
- Angiokeratomas
- Kidney failure
- Cardiac involvement
Reasons
GLA gene mutation.
Diagnosis
Enzyme activity, genetic testing.
Treatment
Enzyme replacement therapy.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of a pain crisis, the emergency room should be consulted.
This page is for general information purposes only.