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 ?
There is tremendous momentum for the launch and regulatory review processes for Galafold as we expand global access to this important oral precision medicine for Fabry disease.
Proceeds from the financing will be used to advance multiple gene therapies from Avrobio's proprietary lentiviral platform, including the company's lead gene therapy, AVR-RD-01, currently in Phase 1 for Fabry disease, as well as three additional gene therapies for other lysosomal storage disorders, Gaucher disease, cystinosis and Pompe disease.
All LSDs are inherited as autosomal recessive (AR) disorders; except for Mucoploysaccaridosis Type-II, Fabry disease and Danon disease, which are inherited as X-linked recessive disorders.
Fabry disease is a panethnic lipidosis first described in 1898 by Johannes Fabry and William Anderson.
Reduced activity of these enzymes may be indicative of Mucopolysaccharidosis Type I (MPS I), Pompe, Gaucher or Fabry disease.
It was reported yesterday that United States-based Amicus Therapeutics is planning to file a new drug application with the United States Food and Drug Administration for the oral precision drug Migalastat intended for combating Fabry disease.
Potent GCS inhibitors reduce glucosylceramide (GlcCer), the substrate of GBA and the storage material in Gaucher, and also higher glycosphingolipids including gangliosides and globosides, the causative storage materials in Tay-Sachs disease, GM1 gangliosidosis and Fabry disease.
In addition to MPS I, Pompe, and Krabbe diseases, screening may include Fabry disease ([alpha]-galactosidase A deficiency; OMIM 301500), NiemannPick type A and B disease (NPA/B) (acid sphingomyelinase deficiency; OMIM 257200 and 607616), mucopolysaccharidosis type II (iduronate-2-sulfatase deficiency; OMIM 309900), and Gaucher disease ([beta]-glucosidase deficiency; OMIM 230800).
GlobalData's clinical trial report, "Fabry Disease Global Clinical Trials Review, H1, 2016" provides an overview of Fabry Disease clinical trials scenario.
Fabry disease (FD) is a disease characterized by the pathological accumulation of glycosphingolipid Gb3 in some cells; it progresses with a lack of lysosomal alpha-galactosidase and is inherited in an X-linked recessive manner (1).
com) is studying the use in pregnancy of agalsidase beta (Fabrazyme) for Fabry disease.
It also reviews key players involved in the therapeutic development for Fabry Disease and special features on late-stage and discontinued projects.