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

Anderson-Fabry disease

An X-LINKED RECESSIVE genetic disorder which is therefore fully expressed in the male, who has only one X CHROMOSOME. Females are either carriers or show a partial form. Failure to catabolize alpha-D-galactosyl glycolipid moieties results in abnormal deposition of glycolipids in cells leading to widespread damage to blood vessels in most of the organs in the body. The disease features tingling and severe burning pain in the extremities, nausea, vomiting, abdominal pain, muscle and joint pain, RAYNAUD'S PHENOMENON, slightly raised, scaly, bright red to blue-black spots on the skin, corneal changes, cataract, deafness, a tendency to heart attack and heart valve disease and kidney failure. It is an important risk factor for STROKE. The location of the mutated gene for the deficient enzyme, alpha-galactosidase A, is known and treatment by enzyme replacement has improved the outlook. (W. Anderson, English surgeon and dermatologist, 1842–1900, and Johannes Fabry, German physician, 1860–1930).

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

Anderson,

W., English surgeon and dermatologist, 1842-1900.

Anderson-Fabry disease - Synonym(s): Fabry disease