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.

FABRY'S disease is a hereditary systemic disorder that was first recognized in affected
males as a disease characterized by multiple small dark-purple macules and papules in
the umbilical region, scrotum and other areas.1Initially, attention was paid primarily
toward these dermatologic manifestations, and the disease was designated
angiokeratoma corporis diffusum universale. As the systemic nature of the disorder
became apparent, the patients were found to have a lipid material deposited
throughout the body. The lipid was at first regarded as a phospholipid, but it has
recently been shown to be a neutral glycolipid

Fabry disease is sometimes diagnosed using a blood test that measures the activity of the
affected enzyme called alpha-galactosidase, but genetic testing is also sometimes used,
particularly in females.