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Lysosomal Acid Lipase Deficiency News

Related terms: Wolman's Disease

Newborn Screening Tests Approved

Posted 6 Feb 2017 by

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, Mucopolysaccharidosis Type I, Cerebral Sphingolipidosis, Fabry Disease, Lysosomal Acid Lipase Deficiency

Kanuma Approved for Rare Missing-Enzyme Disease

Posted 12 Dec 2015 by

TUESDAY, Dec. 8, 2015 – Kanuma (sebelipase alfa) has been approved by the U.S. Food and Drug Administration as the first treatment for a rare but often-deadly disease caused by an enzyme deficiency. People with Lal deficiency, also known as Wolman disease or cholesteryl ester storage disease, produce little or none of the enzyme lysosomal acid lipase (Lal). This causes fat buildup in the body that can lead to life-threatening liver or heart problems. The disease, affecting up to two people per million births, is commonly diagnosed during the first two-to-four months of infancy, the FDA said in a news release. Life expectancy depends on the disease's severity and its complications, the agency said. Kanuma is human Lal that's produced by genetically modified chickens in their egg whites. Neither the chicken or its eggs are allowed in the food supply, the FDA said. The injected drug is ... Read more

Related support groups: Sebelipase Alfa, Kanuma, Lysosomal Acid Lipase Deficiency

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