Overview
- Fabry disease: X-linked lysosomal storage disorder caused by mutations in the GLA gene.
- Deficiency of alpha-galactosidase A leads to accumulation of globotriaosylceramide (GL3) in tissues.
- Results in multi-organ disease with variable onset (childhood to fifth decade).
Etiology
- Gene mutation: GLA gene on the X chromosome.
- Alpha-galactosidase A deficiency → GL3 accumulation.
- Types of mutations:
- Classic Fabry disease: Multisystem involvement, severe course.
- Late-onset variants: Predominantly cardiac manifestations.
Epidemiology
- Prevalence:
- Classic phenotype: 1:22,000 to 1:40,000 males.
- Atypical presentations: 1:1000 to 1:3000 males; 1:6000 to 1:40,000 females.