Stedman's Medical Dictionary
Fabry disease
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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; paresthesia in the extremities, cornea verticillata, and spokelike posterior subcapsular cataracts. Death results from renal, cardiac, or cerebrovascular complications; X-linked recessive inheritance caused by mutation of the α-galactosidase gene (GLA) on Xq.
Synonym(s): angiokeratoma corporis diffusum, diffuse angiokeratoma, glycolipid lipidosis
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