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.