Gaucher's disease

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Related to Gaucher's: Gaucher's cells

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 ?
Indeed, life may be tough for individuals who suffer from Gaucher's disease, a rare and inherited disorder wherein the deficiency of enzyme called beta-glucocerebrosidase (that is produced in our cells) results in the accumulation of a fatty substance called glucocerebroside into a sugar and a simpler fat molecule throughout the body, more often in the bone marrow, spleen and liver.
The report reviews key players involved in the therapeutics development for Gaucher's Disease and enlists all their major and minor projects
Identify and understand important and diverse types of therapeutics under development for Gaucher's Disease.
This study is likely to motivate clinical trials for the treatment of neuropathic lysosomal storage diseases, including Gaucher's disease, where the current standard of care, enzyme replacement therapy, is ineffective," Nature quoted team leader Dr.
Taliglucerase alfa is currently being provided to Gaucher's patients in the US under an expanded access protocol, as well as to patients in the European Union under a compassionate use protocol, Protalix said.
Gaucher's disease is an enzyme deficiency that can cause an enlarged liver and spleen, anemia, frequent bleeding and bone weakness.
Upper limb involvement in patients with Gaucher's disease.
But witnesses told officers that Morales and Gaucher exchanged gestures, honked horns and flashed headlights before she followed Gaucher's Plymouth van down the off-ramp and bumped him a couple of times.
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.
Brady first proposed enzyme-replacement therapy for Gaucher's disease 25 years ago.
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.