Fabry disease is an X-linked recessive disease where the defect in of storage of sphingolipid. Females can be mildly affected.
The underlying deficiency is of alpha-galactosidase, resulting in the accumulation of alpha-galactosyl- lactosyl-ceramide in various tissues, including kidney, liver, blood vessels and nerve ganglion cells.
The incidence is estimated at about one in 40,000 males - the condition is found in all ethnicities.
The disease is also known as Anderson-Fabry disease (after William Anderson, a German physician, and Johann Fabry, a German physician, who independently published articles in 1898 describing this condition), Morbus Fabry and angiokeratoma corporis diffusum universale.
Last reviewed 01/2018