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ALL / Clinical Sciences
Fabry disease
Fabry disease
Fabry disease is an X-linked recessive lysosomal storage disorder caused by deficiency of the enzyme α-galactosidase A, leading to accumulation of globotriaosylceramide (Gb3/GL-3) in various tissues.Deficient breakdown of glycosphingolipids → progressive deposition in vascular endothelium, renal cells, myocardium, and nervous system → multi-system disease
Features
- burning pain/paraesthesia in childhood
- angiokeratomas
- corneal verticillata (whorled corneal opacities, usually asymptomatic)
- proteinuria
- early cardiovascular disease
+PassMedicine Notes
Fabry disease is an X-linked recessive lysosomal storage disorder caused by deficiency of the enzyme α-galactosidase A, leading to accumulation of globotriaosylceramide (Gb3/GL-3) in various tissues.
Deficient breakdown of glycosphingolipids → progressive deposition in vascular endothelium, renal cells, myocardium, and nervous system → multi-system disease
Features- burning pain/paraesthesia in childhood
- angiokeratomas
- corneal verticillata (whorled corneal opacities, usually asymptomatic)
- proteinuria
- early cardiovascular disease
