Fabry Disease

Overview

Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A enzyme, leading to accumulation of globotriaosylceramide in various tissues. Clinical manifestations include angiokeratomas, acroparesthesias, corneal opacities, cardiac and renal complications, and cerebrovascular disease. The estimated prevalence ranges from 1 in 40,000 to 1 in 117,000 live births, with variable phenotypes including classic and late-onset forms.

Available Treatments (0)

Classification & Codes