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Fabry Disease News

Newborn Screening Tests Approved

Posted 6 Feb 2017 by Drugs.com

MONDAY, Feb. 6, 2017 – A set of screening tests designed to detect four rare metabolic disorders in newborns has been approved by the U.S. Food and Drug Administration. The "Seeker" system of diagnostics is designed to screen for Mucopolysaccharidosis Type 1, Pompe, Gaucher and Fabry. These are the first tests approved to screen for the inherited disorders, which affect proteins that normally eliminate harmful substances from the body, the FDA said in a news release. The disorders occur in as few as 1 in 185,000 births, or as many as 1 in 1,500 births, depending on the disorder, the agency said. The conditions, collectively called Lysosomal Storage Disorders, could lead to organ damage and death if not treated in a timely way, the FDA added. Some states now require screening of these disorders, the agency said, including Arizona, Illinois, Kentucky, Michigan, Missouri, New Jersey, New ... Read more

Related support groups: Diagnosis and Investigation, Pompe disease, Gaucher Disease, Lysosomal Acid Lipase Deficiency, Mucopolysaccharidosis Type I, Cerebral Sphingolipidosis, Fabry Disease

Enzyme Replacement May Help in Fabry Disease

Posted 2 Dec 2009 by Drugs.com

WEDNESDAY, Dec. 2 – New research suggests that enzyme replacement therapy can make a major difference in the lives of people with Fabry disease, a rare illness that affects the kidneys, heart and brain. The progressive disease, linked to the lack of an enzyme that helps metabolic pathways function in the body, can be fatal because it boosts the risk for a stroke, heart attack and kidney disease. A study published Dec. 1 in The Lancet analyzed a treatment that replaced an enzyme called agalsidase alfa. The researchers found that the treatment reduced signs of heart disease in people who had oversized hearts. It also appeared to improve kidney function, lower pain levels and improve scores on quality-of-life surveys. "Enzyme-replacement therapy has only been available typically since 2001, and, thus, duration of exposure might be too short to assess whether this strategy prolongs life," ... Read more

Related support groups: Fabry Disease

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Further Information

Related Condition Support Groups

Metabolic Disorder Including Congenital

Related Drug Support Groups

agalsidase beta, Fabrazyme