- X-linked recessive (in contrast to the other sphingolipidoses [Tay-Sachs, Gaucher, Niemann-Pick])

- deficient α-galactosidase with accumulation of ceramide trihexoside

- burning sensations in the hands- reddish-purple blemishes on the skin (angiokeratomas)- cloudiness of the cornea- impaired arterial circulation- enlargement of heart, kidneys

- presents during childhood or adolescence