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Gaucher Disease

  • Living reference work entry
  • First Online:
Encyclopedia of Inflammatory Diseases

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Synonyms

Gaucher’s disease; Glucocerebrosidase deficiency; Glucosylceramidase deficiency

Definition

Gaucher disease (GD) is a lysosomal storage disorder, caused by deficiency of the lysosomal enzyme beta-glucocerebrosidase or glucosylceramidase (GBA; EC 3.2.1.45). Storage of undegraded glucosylceramide in macrophages leads to hepatosplenomegaly, cytopenia, skeletal disease, and sometimes pulmonary or liver disease. Central nervous system symptoms are seen in the rare neuropathic forms.

Epidemiology and Genetics

GD is a genetic disorder with an autosomal recessive inheritance. The GBA gene encoding beta-glucosidase or acid beta-glucocerebrosidase is located on chromosome 1q21. More than 200 mutations have been described (http://omim.org/entry/606463). The prevalence of GD is reported to be around 1 in 75,000 (Meikle et al. 1999; Poorthuis et al. 1999), but it is likely that this is an underestimation, as newborn screening studies have shown a higher prevalence than expected (Mechtler...

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Authors and Affiliations

  1. Department of Endocrinology and Metabolism, Academic Medical Center (AMC), Meibergdreef 9, 22660, 1100DD, Amsterdam, The Netherlands

    C. E. M. Hollak

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  1. C. E. M. Hollak
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Correspondence to C. E. M. Hollak .

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Editors and Affiliations

  1. Inst of Clinical Pharmacology Haus 74/75, JW Goethe University Frankfurt Fraunhofer IME, Frankfurt, Germany

    Michael Parnham

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Hollak, C.E.M. (2015). Gaucher Disease. In: Parnham, M. (eds) Encyclopedia of Inflammatory Diseases. Birkhäuser, Basel. https://doi.org/10.1007/978-3-0348-0620-6_88-2

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  • DOI: https://doi.org/10.1007/978-3-0348-0620-6_88-2

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