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Gaucher disease

Pronunciation: go-sha'

Definition: a lysosomal storage disorder due to a deficiency of glucocerebrosidase resulting in accumulation of glucocerebroside; high incidence among Ashkenazi Jews; occurs most severely in infants, characterized by hepatosplenomegaly, hematologic abnormalities, bone lesions, neurologic manifestations with ataxia, spastic paraplegia, seizures, dementia, and presence of characteristic histiocytes (Gaucher cells) in the viscera; autosomal recessive inheritance, caused by mutation in the glucocerebrosidase A gene (GBA) on chromosome 1q. There are three main forms: type I, noncerebral juvenile [MIM*230800]; type II, cerebral juvenile [MIM*230900]; and type III, adult cerebral [MIM*231000]; the juvenile forms are most severe.

Synonym(s): cerebroside lipidosis

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.