Gaucher's disease(redirected from Gaucher disease type 2)
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Related to Gaucher disease type 2: Gaucher disease type 3
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.
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.
Gaucher's diseaseA 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).
A rare genetic disease caused by a deficiency of enzymes needed for the processing of fatty acids.
Mentioned in: Enzyme Therapy