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

[gôshāz′]
Etymology: Phillipe C.E. Gaucher, French physician, 1854-1918
a rare autosomal-recessive familial disorder of lipid metabolism caused by an enzyme deficiency, characterized by widespread reticulum cell hyperplasia in the liver, spleen, lymph nodes, and bone marrow. Beginning in infancy or early childhood, splenomegaly, hepatomegaly, and abnormal bone growth develop. Diagnosis is made through biopsy of the liver, spleen, or bone marrow. Mortality rate is high, but children who survive adolescence may live for many years. Also called glucosyl cerebroside lipidosis.
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Bone marrow smear in Gaucher's disease

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

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.
References in periodicals archive ?
Devise corrective measures for pipeline projects by understanding Gaucher's Disease pipeline depth and focus of Indication therapeutics
In the new paper, the lab found that the prescription drugs diltiazem and verapamil were effective in restoring partial cellular folding, trafficking, and function to mutant enzymes responsible for three lysosomal storage disorders, including Gaucher's disease.
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Identify and understand important and diverse types of therapeutics under development for Gaucher's Disease.
The genetic-code change was thenchecked in a larger sample using an enzyme that slices DNA at points signaling either the presence of a normal glucocerebrosidase gene sequence or the Gaucher's disease mutation.
Gaucher's Disease is the most common inherited metabolic disorder of glycolipid metabolism.
The Gaucher's Disease Therapy Area Pipeline Report contains detailed information on the gaucher's disease drug pipeline.
NASDAQ: CPRO) announced today that the Recombinant DNA Advisory Committee (RAC) of the National Institutes of Health (NIH) has approved two gene therapy protocols involving the use of the company's CEPRATE(R) Stem Cell Concentration System for treatment of Gaucher's disease.
Food and Drug Administration (FDA) for taliglucerase alfa, a plant-cell expressed form of glucocerebrosidase (GCD) for the potential treatment of Gaucher's disease.
NEW YORK -- Pfizer (NYSE: PFE) and Protalix (NYSE-Amex: PLX) today announced that they have entered into an agreement to develop and commercialize taliglucerase alfa, a plant-cell expressed form of glucocerebrosidase (GCD) in development for the potential treatment of Gaucher's disease.
and serves Aetna members with chronic conditions who suffer from diseases such as cancer, Crohn's Disease, cystic fibrosis, Gaucher's Disease, hemophilia, hepatitis, HIV/AIDS, Multiple Sclerosis, pulmonary hypertension, renal failure, respiratory syncytial virus (RSV), rheumatoid arthritis, organ transplants and anemia.
Genzyme's key products include Cerezyme for Gaucher's disease, Renagel for chronic kidney disease and Fabrazyme for Fabry's disease.