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.

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    Information

    Published:10 December 2024 Last Updated:10 December 2024