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 ?
One should remember that Gaucher's disease is progressive and, if left untreated, will usually become worse over time.
* The report provides a snapshot of the global therapeutic landscape of Gaucher's Disease
There were 35 cases (3.4%) of glycogen storage disorders, 24 (2.36%) cases of Gaucher's disease, 33 cases (3.2%) of Neiman pick's disease [9].
* Identify and understand important and diverse types of therapeutics under development for Gaucher's Disease.
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.
Shire Pharmaceuticals PLC is also seeking approval in the United States to sell a drug for Gaucher's disease.
Novel oral treatment of Gaucher's disease with lubutyldeoxynojirimycin (OGT918) to decrease substrate biosynthesis.
Upper limb involvement in patients with Gaucher's disease. J Hand Surg [Am].
Chronic conditions covered include renal disease, organ transplants, cancer, cystic fibrosis, pulmonary hypertension, hepatitis , Crohn's Disease, Gaucher's Disease, HIV/AIDS, Multiple Sclerosis, respiratory syncytial virus (RSV), rheumatoid arthritis, and anemia.