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Gaucher disease: Pathogenesis, clinical manifestations, and diagnosis - UpToDate

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INTRODUCTION 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. 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 prognosis" and "Gaucher disease: Treatment".) EPIDEMIOLOGY GD is one of the most common lysosomal storage diseases. Type 1 GD (GD1) is the most prevalent type in the United States, Europe, and Israel and occurs with greater frequency in the Ashkenazi Jewish population. Type 2 GD (GD2) occurs 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

INTRODUCTION 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 often involves the visceral organs, bone marrow, and bone and may include nervous system manifestations (ie, neuronopathic GD). The epidemiology, pathogenesis, genetics, clinical manifestations, and diagnosis of GD are discussed here. The management of GD is discussed separately. (See "Gaucher…

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