Fabry disease
Fabry disease
Definition
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
Also known as Alpha-galactosidase A deficiency, Anderson-Fabry disease, angiokeratoma corporis diffusum, diffuse angiokeratoma, Fabry disease, Fabry's disease, FD — per MONDO