Day 5 of ‘a rare disease a day’ following on from Hunter syndrome, Gaucher disease, Tay-Sachs, and Morquio syndrome it is the turn of Fabry disease (which is also known as Fabry’s disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency). The disease is caused by a deficiency of the enzyme alpha galactosidase A …
