Frequency
Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder in Europe, Israel, Canada, and the United States. This form occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds; it affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. Types 2 and 3 are uncommon and do not occur more frequently in people of Ashkenazi Jewish descent. These types can be more prevalent than type 1 in certain regions, such as Egypt, India, Japan, Poland, and Sweden.
Causes
Variants (also known as mutations) in the GBA1 gene cause Gaucher disease. The GBA1 gene provides instructions for making an enzyme called lysosomal acid glucosylceramidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Variants in the GBA1 gene greatly reduce or eliminate the activity of lysosomal acid glucosylceramidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease.
Inheritance
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Other Names for This Condition
- Cerebroside lipidosis syndrome
- Gaucher splenomegaly
- Gaucher syndrome
- Gaucher's disease
- Gauchers disease
- GD
- Glucocerebrosidase deficiency
- Glucocerebrosidosis
- Glucosyl cerebroside lipidosis
- Glucosylceramidase deficiency
- Glucosylceramide beta-glucosidase deficiency
- Glucosylceramide lipidosis
- Kerasin histiocytosis
- Kerasin lipoidosis
- Kerasin thesaurismosis
- Lipoid histiocytosis (kerasin type)
Additional Information & Resources
Genetic Testing Information
Genetic and Rare Diseases Information Center
Patient Support and Advocacy Resources
Clinical Trials
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
References
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