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Gaucher's disease

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Gaucher's disease
n.
A rare familial disorder of fat metabolism due to a glucocerebrosidase deficiency and characterized by enlargement of the liver and spleen, lymphadenopathy, and bone destruction. Also called cerebroside lipidosis, cerebrosidosis.

Gaucher's disease
A rare genetic disease caused by a deficiency of enzymes needed for the processing of fatty acids.
Mentioned in: Enzyme Therapy

Gaucher's disease
a hereditary disorder of glucocerebroside metabolism, marked by the presence of Gaucher's cells in many tissues. Occurs in dogs (Australian silky terriers), sheep, pigs and mice. See also glucocerebroside, gaucher's cells.

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Brady's first discovery led directly to Ceredase, a drug for treating the devastating symptoms of Gaucher's Disease, which afflicts fewer than 10,000 people worldwide, generally killing them before they reach adulthood.
Last month, the European Union approved a version of NB-DNJ called miglustat for Gaucher's disease, a debilitating genetic disorder.
The recent arrival on the market of a modified glucocerebrosidase (Ceredase) for Gaucher's Disease and last year's approval of PEG-adenosine deaminase for severe combined immunodeficiency disease illustrate the growing capabilities of the pharmaceutical industry to provide endogenous compounds that patients are lacking.
 
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