Fabry disease

(redirected from glycolipid lipidosis)

Fa·bry dis·ease

(fah'brē), [MIM*301500]
disease due to deficiency of α-galactosidase and characterized by abnormal accumulations of neutral glycolipids (for example, 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.
Farlex Partner Medical Dictionary © Farlex 2012

Fabry disease

(fä′brē)
n.
An X-linked lysosomal storage disease marked by progressive symptoms including burning pain in the hands and feet, sweating, and purple skin lesions, with death resulting from renal, cardiac, or cerebrovascular complications.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

Fa·bry dis·ease

(fah'brē di-zēz')
A disorder resulting from deficient α-galactosidase and characterized by abnormal accumulations of neutral glycolipids (e.g., globotriaosylceramide) in endothelial cells in blood vessel walls; clinical findings include angiokeratomas on the thighs, buttocks, and genitalia; hypohidrosis; paresthesia in extremities; cornea verticillata; and spokelike posterior subcapsular cataracts. Death results from renal, cardiac, or cerebrovascular complications. An X-linked recessive inheritance that is caused by mutation of the α-galactosidase gene (GLA) on Xq.
Synonym(s): Anderson-Fabry disease, Ruiter-Pompen disease, Sweeley-Klionsky disease.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Fabry disease

See ANDERSON-FABRY DISEASE.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

Fabry,

Johannes, German dermatologist, 1860-1930.
Anderson-Fabry disease - Synonym(s): Fabry disease
Fabry disease - an X-linked recessive disorder of glycosphingolipid metabolism. Synonym(s): Anderson-Fabry disease; diffuse angiokeratoma; glycolipid lipidosis
Medical Eponyms © Farlex 2012
References in periodicals archive ?
Concentration of glycosylceramides in plasma and red cells in Fabry's disease, a glycolipid lipidosis. J Lipid Res 1969;10:188-92.