Friday, April 16, 2004

Fabry's Disease

Also called  Angiokeratoma Corporis Diffusum,   sex-linked hereditary disease in which a deficiency in the enzyme alpha-galactosidase A results in abnormal deposits of a glycosphingolipid (ceramide trihexoside) in the blood vessels. These deposits in turn produce heart and kidney disturbances resulting in a marked reduction in life expectancy. Distinctive clusters of dark red granules in the skin on the

0 Comments:

Post a Comment

<< Home