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Fabry disease

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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.

Reference:

  1. Dermatology in Practice (2003), 11 (6), 24-7.

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