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 ?
Cerdelga is reportedly the only first-line oral therapy for certain adult Gaucher disease type 1 patients and Genzyme was selected for bringing an additional treatment option to patients with Gaucher disease, an inherited condition affecting fewer than 10,000 people worldwide.
Currently, this therapy is used in the treatment of Gaucher disease type 1 (1, 2) and Fabry disease (3,4).
M2 EQUITYBITES-August 20, 2014-Genzyme wins US FDA's approval for Cerdelga capsules for Gaucher Disease Type 1
M2 PHARMA-August 20, 2014-Genzyme wins US FDA's approval for Cerdelga capsules for Gaucher Disease Type 1
Genzyme reported on Wednesday the receipt of priority review designation for its New Drug Application (NDA) for Cerdelga (eliglustat) for Gaucher disease type 1.
Genzyme, a division of Sanofi (Euronext:SAN)(NYSE: SNY), announced today that the US Food and Drug Administration (FDA) has granted a six-month Priority Review designation to its New Drug Application (NDA) for Cerdelga (eliglustat), an investigational oral therapy for adult patients with Gaucher disease type 1.