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 ?
ENCORE is a randomized, open-label study for adult patients with Gaucher disease type 1, designed to compare eliglustat tartrate to Cerezyme.
Based on its mechanism of action, which is independent of genotype, eliglustat tartrate may be a potential therapy for all patients with Gaucher disease type 1.
Eliglustat tartrate, a capsule taken orally, is being developed to provide a convenient treatment alternative for adult patients with Gaucher disease type 1, and to offer a broader range of treatment options for patients and physicians to achieve individual therapeutic goals.
The ENGAGE trial is a randomized, double-blind, placebo-controlled study for patients with a confirmed diagnosis of Gaucher disease type 1.
Based on its mechanism of action, which is independent of genotype, Genz-112638 is a potential therapy for all adult patients with Gaucher disease type 1.
The company is currently recruiting patients for two global, multi-center, phase 3 trials of Genz-112638, a potential new oral therapy for Gaucher disease type 1.
The company is developing Genz-112638, a capsule taken orally, to provide a convenient treatment alternative for adult patients with Gaucher disease type 1, and to provide a broader range of treatment options for patients and physicians to achieve individual therapeutic goals.
One trial will include untreated patients with Gaucher disease type 1, and the other a switch trial in which patients who have achieved their therapeutic goals with Cerezyme will be maintained.
McDonough continued, "As we progress through the clinical development plan, we believe that Genz-112638 will become a meaningful treatment option for the management of Gaucher disease type 1, offering patients and physicians more flexibility to individualize therapy for optimal management of the disease.