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Fabry disease

Pronunciation: fah'bre

Definition: disease due to deficiency of a-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 a-galactosidase gene (GLA) on Xq.

Synonym(s): angiokeratoma corporis diffusum, diffuse angiokeratoma, glycolipid lipidosis

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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