Fabry disease


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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.

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.

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.

Fabry disease

See ANDERSON-FABRY DISEASE.

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
References in periodicals archive ?
The suit, brought last year, claimed that Transkaryotic's activities relating to Replagal (agalsidase alfa) enzyme replacement therapy for the treatment of Fabry disease infringe one or more claims of United States Patent 5,356,804.
GlobalData's clinical trial report, Fabry Disease Global Clinical Trials Review, H1, 2012" provides data on the Fabry Disease clinical trial scenario.
Tenders are invited for Purchasing Drugs Fabry Disease
Fabry disease is an X-linked lysosomal storage disorder (LSD) [3] arising from a deficiency of the enzyme [alpha]-galactosidase, which cleaves terminal [alpha]-galactosyl moieties from various glycoconjugates (1, 2).
Genzyme Corporation (Cambridge, MA; 617-252-7785) announced that it has been granted United States Patent 6,066,626 covering all aspects of gene therapy for the treatment of Fabry disease.
Global Markets Direct's, 'Fabry Disease - Pipeline Review, H1 2012', provides an overview of the Fabry Disease therapeutic pipeline.
REPLAGAL first received marketing authorization in the European Union in 2001, and is approved for the treatment of Fabry disease in 45 countries.
Using melting curve analysis with the LightCycler, we have succeeded in rapidly detecting a 2-bp deletion mutation in genomic DNA of a patient with Fabry disease and a 9-bp deletion mutation in cDNA of a patient with carbamoyl-phosphate synthase I (CPS1; EC 6.
focused on commercializing Transkaryotic's alpha-galactosidase A (alpha-gal A) enzyme replacement therapy for Fabry disease in Japan and other Far East territories.
The report provides an in-depth analysis of Gaucher's disease, Fabry disease, Pompe disease, mucopolysaccharidosis VI and Niemann-Pick type C.