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lipid storage disease
(redirected from Lipid storage disorder)

   Also found in: Medical, Wikipedia 0.01 sec.

lipid storage disease

Any of a group of relatively rare hereditary disorders of fat metabolism in which enzyme defects cause distinctive types of lipids to accumulate. They include Tay-Sachs disease, Gaucher disease, Niemann-Pick disease, and Fabry disease. Several are untreatable and cause death before age five; others occur in adulthood.


lipid storage disease [′lip·əd ‚stȯr·ij di‚zēz]
(medicine)
Any of various rare diseases characterized by the accumulation of large histiocytes containing lipids throughout reticuloendothelial tissues; examples are Goucher's disease, Niemann-Pick disease, and amaurotic familial idiocy.


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Actelion is a leader in the development of synthetic small-molecule drugs and produces the products Tracleer (bosentan), an oral treatment for WHO Class III or IV pulmonary arterial hypertension (PAH), a chronic, life-threatening disorder which severely compromises the function of the lungs and heart, Zavesca (miglustat), a small-molecule oral therapy for the treatment of type 1 Gaucher disease, a genetic lipid storage disorder.
His many accomplishments include the development of an enzyme replacement therapy for a severely debilitating lipid storage disorder known as Gaucher disease, for which he received both the Outstanding and Meritorious Service Medals of the United States Public Health Service.
This molecule may be effective in the treatment of Fabry's disease, a multi-systemic, lipid storage disorder caused by a deficiency of this lysosomal enzyme.
 
 
 
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