Gaucher's disease

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Gaucher's disease

 [go-shāz´]
a hereditary disorder of glucocerebroside metabolism, marked by the presence of Gaucher's cells in the bone marrow, and by hepatosplenomegaly and erosion of the cortices of long bones and pelvis. Type 1, the adult form, is associated with moderate anemia and thrombocytopenia, and yellowish pigmentation of the skin. Type 2, the infantile form, also has marked central nervous system impairment. In type 3, the juvenile form, there are rapidly progressive systemic manifestations but moderate central nervous system involvement.

Gaucher's disease

A rare hereditary metabolic disease due to an enzyme defect that interferes with the proper function of cell LYSOSOMES. The condition features massive accumulation of materials called glucocerebrosides in the lysosomes. There is great enlargement of the liver and spleen, bone marrow displacement, bleeding tendency, bronzing of the skin, and anaemia. Also known as cerebroside lipidosis. (Philip Charles Ernst Gaucher, 1854–1918, French physician).

Gaucher's disease

A rare genetic disease caused by a deficiency of enzymes needed for the processing of fatty acids.
Mentioned in: Enzyme Therapy
References in periodicals archive ?
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.
Gaucher's disease affects the lysosomes, which are the so-called garbage recyclers of our cells.
* The report provides a snapshot of the global therapeutic landscape of Gaucher's Disease
* Coverage of the Gaucher's Disease pipeline on the basis of route of administration and molecule type.
Massive hepatic fibrosis in Gaucher's disease: clinic pathological and radiological features.
In the new study, the researchers revealed how the widely available prescription drugs diltiazem, verapamil, and in some cases dantrolene, acted on cells from patients with Gaucher's disease.
On 1 December 2009, Pfizer (NYSE: PFE) and Protalix inked an agreement to develop and commercialise taliglucerase alfa for the treatment of Gaucher's disease.
The deal also gives Pfizer worldwide rights, except in Israel, to sell a genetically engineered drug called taliglucerase alfa to treat a rare inherited condition known as Gaucher's disease.
has licensed global rights to a treatment for Gaucher's disease from Protalix.
Protalix expects to complete the company's Phase III trial of prGCD for the treatment of Gaucher's disease in September, to report top-line results in October and to complete the NDA filing before the end of the year.