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

Medical Eponyms © Farlex 2012

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References in periodicals archive

Neurological complications of Anderson-Fabry disease. Curr Pharm Des.

MULTIPLE SCLEROSIS OR FABRY DISEASE --PROS AND CONS

Miners, "Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females," Journal of Medical Genetics, vol.

Major Organic Involvement in Women with Fabry Disease in Argentina

Anderson-Fabry disease (AFD) is an X-linked disease of lysosomal metabolism resulting in attenuated activity or absence of the enzyme alpha-galactosidase A (a-Gal A).

Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation

Renal involvement in Anderson-Fabry disease. J Nephrol.

Fabry Nephropathy

Anderson-Fabry Disease. Anderson-Fabry disease is a rare X-linked recessive lysosomal storage disorder, caused by mutations of the GLA gene that encodes [alpha]-galactosidase A which breaks down neutral glycosphingolipids [85].

Restrictive Cardiomyopathies: The Importance of Noninvasive Cardiac Imaging Modalities in Diagnosis and Treatment--A Systematic Review

The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)-investigation of symptomatic and presymptomatic patients.

Electroneuromyographic features in fabry disease: a retrospective review

Anderson-Fabry disease, a commonly missed diagnosis.

Angiokeratoma corporis diffusum without systemic features in a young Kashmiri female: a rare occurrence

(2008) Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa.

Pharmacological chaperone therapy for Fabry disease

Her GP treated her symptoms with antibiotics and doctors who treated her for 10 days at Belfast's Mater Hospital suspected Miss Best was suffering from vertigo or Anderson-Fabry disease, which leaves victims with painful pustules over all their body.

Tragic gas teen's sister vows to keep Aaron's memory alive; EXCLUSIVE