(= angiokeratoma) Storage disease due to deficiency of ceramide trihexosidase.
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 disease are more severely affected than females since t...Found on http://www.medterms.com/script/main/art.asp?articlekey=7557
<disease> Storage disease due to deficiency of ceramide trihexosidase. ... (18 Nov 1997) ... Found on http://www.encyclo.co.uk/local/20973
(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 (angiokeratomas), cent...Found on 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, buttocks, and genitalia; hypohidrosis; paresthes...Found on http://www.medilexicon.com/medicaldictionary.php?t=25465
Fabry disease (i) (also known as Fabry`s disease, Anderson-Fabry disease, angiokeratoma corporis diffusum, and alpha-galactosidase A deficiency) is a rare genetic lysosomal storage disease, inherited in an X-linked manner. Fabry disease can cause a wide range of systemic symptoms. It is a form of sphingolipidosis, as it involves dysfunctional met....Found on http://en.wikipedia.org/wiki/Fabry_disease
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