Fabry disease: A genetic disease due to deficiency of the enzyme alpha-galactosidase A. This enzyme is essential to the metabolism of molecules known as glycosphingolipids. Without the enzyme, glycosphingolipids accumulate in the kidneys, heart, nerves and throughout the body. Males with Fabry disea...
Found op http://www.medterms.com/script/main/art.html?articlekey=7557
(= angiokeratoma) Storage disease due to deficiency of ceramide trihexosidase.
Found op http://www.encyclo.co.uk/visitor-contributions.php
<disease> Storage disease due to deficiency of ceramide trihexosidase. ... (18 Nov 1997) ...
Found op http://www.mondofacto.com/facts/dictionary?Fabry+disease
(fah´bre) ain inherited form of sphingolipidosis, caused by a recessive gene located on the X chromosome, in which the glycolipid trihexosyl ceramide is deposited in various tissues, especially the kidneys; the deficient enzyme is α-galactosidase A. It is marked by purpuric skin lesions (angio...
Found op http://www.encyclo.co.uk/local/21001
Type: Term Pronunciation: fah′brē Definitions: 1. disease due to deficiency of α-galactosidase and characterized by abnormal accumulations of neutral glycolipids (globotriaosylceramide) in endothelial cells in blood vessel walls. Clinical findings include angiokeratomas on the thighs...
Found op http://www.medilexicon.com/medicaldictionary.php?t=25465
Fabry disease (also known as Fabry`s disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency) is a rare X-linked (inherited) lysosomal storage disease, which can cause a wide range of systemic symptoms. The disease is named after one of its discoverers,...
Found op http://en.wikipedia.org/wiki/Fabry_disease
sex-linked hereditary disease in which a deficiency in the enzyme alpha-galactosidase A results in abnormal deposits of a glycosphingolipid (ceramide ... [2 related articles]
Found op http://www.britannica.com/eb/a-z/f/1
<disease> Lysosomal storage disease caused by a deficiency of alpha-galactosidase a and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems. ... The disease is characterised by telangiectatic skin lesions, renal failure, and disturbances of the cardiov...
Found op http://www.mondofacto.com/facts/dictionary?fabry's+disease
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