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Gaucher disease: Pathogenesis, clinical manifestations, and diagnosis

Derralynn Hughes, MD
Section Editor
Sihoun Hahn, MD, PhD
Deputy Editor
Elizabeth TePas, MD, MS


Gaucher disease (GD) is an inborn error of metabolism that affects the recycling of cellular glycolipids. Glucocerebroside (also called glucosylceramide) and several related compounds that are ordinarily degraded to glucose and lipid components accumulate within the lysosomes of cells.

GD is one of several inherited metabolic disorders that can be treated by replacement of the deficient enzyme (enzyme-replacement therapy). Early identification is crucial to improving ultimate outcome because early treatment can prevent development of irreversible complications [1,2].

The epidemiology, pathogenesis, genetics, clinical manifestations, and diagnosis of GD are discussed here. The initial assessment, routine monitoring, and treatment are discussed separately. (See "Gaucher disease: Initial assessment, monitoring, and clinical course" and "Gaucher disease: Treatment".)


GD is one of the most common lysosomal storage diseases. It occurs in approximately 1 in 75,000 births worldwide but is more prevalent in individuals of Ashkenazi-Jewish descent [3-5]. Type 1 GD (GD1) is the most prevalent and occurs with greater frequency in the Ashkenazi-Jewish population. Types 2 and 3 are less common and occur in all ethnic types. There were approximately 20,000 individuals with GD in the United States in the mid-1990s, based upon a gene frequency study, two-thirds of whom were Ashkenazi Jews [6].

Approximately 90 percent of patients have GD1, which is the nonneuronopathic form. GD1 is the most common type seen in the Ashkenazi-Jewish population, although most patients with GD1 are not Jewish. The carrier frequency in the Ashkenazi-Jewish population is approximately 1 in 12 [7], and the frequency of disease-associated genotypes is calculated at 1 in 850 [8]. The incidence of GD1 is much lower in non-Jewish populations, occurring in approximately 1 in 40,000 [9] to 1 in 86,000 [10] livebirths.

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Literature review current through: Nov 2017. | This topic last updated: Nov 15, 2017.
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