Article
Fabry disease.
Skinmed - 1 Jan 2000
Tarabuso Ana Lía
Abstract excerpt
Fabry disease (FD) is an X-linked lysosomal disorder caused by the deficient activity of the enzyme alpha-galactosidase A, which leads to multisystemic storage of globotriaosylceramide in visceral tissues and vascular endothelium. FD manifests primarily in affected hemizygous men, with a wide range of clinical signs in heterozygous women. Acroparesthesias, angiokeratomas, pain crisis, and cornea verticillata are...
Topics
- Age Factors
- Enzyme Replacement Therapy
- Fabry Disease
- Female
- Humans
- Male
- Mutation
- Sex Factors
- Time Factors
- Trihexosylceramides
- alpha-Galactosidase