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Fabry's disease

Fabry's disease (or Angiokeratoma corporis diffusum) is a lysosomal storage disease caused by deficient alpha galactosidase. more...

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Fabry's disease
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Symptoms

Some of the pathological symtoms includes skin lesions, febrile episodes, burning in extremities. Skin lesions are painless elevated papules that appear all over body. Ocular involvement may present and showing vortex keratopathy. Death in early adulthood usually due to renal failure because of proteinuria induced hypertension.

Treatment

Treatment of Fabry's disease until recently was just symptomatic. This is changing with the drug Agalsidase beta (Fabrazyme®). Problematic is that the cost of the drug (approximately $170,000 US a year/patient) remains a barrier to many patients in some countries.

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Structural and functional brain development after hydrocortisone treatment for neonatal chronic lung disease. : An article from: Pediatrics $5.95 European database providing information on fabry's disease.(Clinical Rounds) : An article from: Skin & Allergy News $5.95
Gale Encyclopedia of Medicine : Lipidoses $5.99 Enzyme Replacement Resolves Fabry Disease.(Brief Article) : An article from: Family Practice News $5.95
Genzyme receives broad patent covering gene therapy for Fabry disease.(Brief Article)(Statistical Data Included) : An article from: BIOTECH Patent News $5.95 The Official Parent's Sourcebook on Fabry's Disease: A Revised and Updated Directory for the Internet Age $32.71
First-degree atrioventricular block and restrictive physiology as cardiac manifestations of Fabry's disease. (Case Report). : An article from: Southern Medical Journal $5.95 Fabry's disease database will facilitate diagnosis.(Clinical Rounds) : An article from: Family Practice News $5.95
Six diagnostic possibilities for painful, red feet. (Different Treatment Options). : An article from: Pediatric News $5.95

First treatment for Fabry's disease - Updates - Brief Article
The FDA has approved Fabrazyme (agalsidase beta), the first treatment for people with Fabry's disease. This serious genetic metabolic disorder affects ...
From FDA Consumer, 7/1/03
Genzyme completes phase IV study of Fabrazyme for Fabry's disease
Genzyme has successfully completed its principal Phase IV study of Fabrazyme (recombinant alpha galactosidase beta) and performed a preliminary analysis ...
From Journal of Drugs in Dermatology, 11/1/04
Firms vie to treat genetic disease - Fabry's disease - Brief Article
Genzyme stands at the center of another enzyme-replacement story. The rare, fatal genetic condition in this instance is Fabry's disease. In people with ...
From Science News, 11/4/00 by
Enzyme Replacement Resolves Fabry Disease - Brief Article
PHILADELPHIA -- Enzyme replacement therapy has conquered Fabry disease, a rare, lysosomal storage disease. In two independent reports at the annual ...
From Family Pratice News, 3/1/01 by Mitchel L. Zoler
Therapy OK'd for Fabry's disease
WASHINGTON -- Federal health officials have approved the first- ever treatment for Fabry's disease, a rare, inherited disorder that often kills its ...
From Oakland Tribune, 4/25/03 by Lauran Neergaard, Associated Press
Enzyme seen as key in battling Fabry's disease
Enzyme seen as key in battling Fabry's disease, researchers say Associated Press Thursday, July 5, 2001 Replacing a missing enzyme in people ...
From Milwaukee Journal Sentinel, The, 7/5/01
Lipidoses
Lipidoses are heredity disorders, passed from parents to their children, characterized by defects of the digestive system that impair the way the body uses fat from the diet. When the body is unable t
From Gale Encyclopedia of Medicine, 4/6/01 by Altha Roberts Edgren
Pathologic Quiz Case: An Unsuspected Cause of Nephrotic Syndrome
A 30-year-old woman presented with a history of nephrotic syndrome diagnosed when she was 4 years old. There was no family history of renal disease. An ...
From Archives of Pathology & Laboratory Medicine, 5/1/04 by Thamboo, Thomas Paulraj

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