What is Fabry’s disease?

Fabry’s disease (angiokeratoma corporis diffusum universale) is the result of defective activity of a lysosomal enzyme, α-galactosidase A, which leads to deposition of neutral glycosphingo-lipids, particularly trihexosyl ceramides, in many cells and tissues of the body. It is inherited in an X-linked recessive pattern, with nearly all patients being male. Heterozygous females are generally asymptomatic, although they often have characteristic corneal opacities.

Desnick RJ, Brady RO: Fabry disease in childhood, J Pediatrics 144:S20–S26, 2004.