Gaucher disease
A series of 5 diseases due to deficient activity of the enzyme glucocerebrosidase, leading to accumulation of glucocerebroside in tissues of the body. The 5 types of Gaucher disease encompass a continuum of clinical findings from a lethal form before or just after birth to a form so mild that it may not be diagnosed until old age. All 5 types of Gaucher disease are inherited in an autosomal recessive manner. See the entries also to: {{}}Gaucher disease, type 1 Gaucher disease, types 2-5

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a lysosomal storage disease characterized by glucocerebroside (glucosylceramide) accumulation in Gaucher cells, storage cells in the liver, spleen, lymph nodes, alveolar capillaries, and bone marrow; it is caused by mutations in either glucocerebrosidase (glucosylceramidase) or an activator protein associated with that enzyme, saposin C. There are three clinical types: type 1, called also chronic nonneuronopathic or “adult” type, may appear at any age and is associated with hypersplenism, thrombocytopenia, anemia, jaundice, and bone lesions; type 2, called also acute neuronopathic or “infantile” type, is associated with onset in infancy, hepatosplenomegaly, severe impairment of the central nervous system, and death usually within the first year; and type 3, called also subacute neuronopathic or “juvenile” type, is the most varied, having the same clinical features as types 1 and 2 but a longer course. Called also glucosylceramide lipidosis.

Medical dictionary. 2011.

Look at other dictionaries:

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  • Gaucher's disease — Gau·cher s disease .gō shāz n a rare hereditary disorder of lipid metabolism that is caused by an enzyme deficiency of glucocerebrosidase, that is characterized by enormous enlargement of the spleen, pigmentation of the skin, and bone lesions,… …   Medical dictionary

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