Fabry disease

Overview

Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in GLA, resulting in alpha-galactosidase A deficiency and globotriaosylceramide accumulation. Symptoms often begin with acroparesthesia, angiokeratomas, hypohidrosis, corneal verticillata, renal dysfunction, cardiomyopathy, and stroke risk. It is rare and underdiagnosed, and disease-specific enzyme replacement and pharmacologic chaperone therapies are available for selected patients.

Available Treatments (0)

Classification & Codes