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 ?
Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease.
Because of the progress and great strides that have been made, the organization stressed that Filipino children may never have to suffer the debilitating and painful affects of Gaucher's disease.
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.
We are excited about this collaboration, which represents a significant step toward bringing--for the first time--a plant-based enzyme replacement treatment option to patients affected by Gaucher's disease," comments Dr.
Pyogenic osteomyelitis versus pseudo-osteomyelitis in Gaucher's disease.
About one-third of the cases of Gaucher's Disease are diagnosed within the first decade, while the remainder are diagnosed during adulthood.
People with Gaucher's disease inherit a defective enzyme that cannot break down a fatty substance called glucocerebroside.
Our clinical trial report, "Gaucher's Disease Global Clinical Trials Review, H2, 2012" provides data on the Gaucher's Disease clinical trial scenario.
Gaucher's disease, an inherited enzyme deficiency, affects more than 20,000 people in the United States and is especially prevalent among Jews of Eastern European ancestry.
Global Markets Direct's, 'Gaucher's Disease - Pipeline Review, H1 2012', provides an overview of the Gaucher's Disease therapeutic pipeline.