What is Gaucher Disease?

Gaucher disease is a rare genetic disorder that is one of a group called lysosomal storage disorders. It is an inherited disorder that results in the accumulation of fatty molecules called cerebrosides in the body’s organs and tissues.

Types of Gaucher Disease

It is caused by a missing or deficient enzyme called ‘glucocerebrosidase‘.1 In people with Gaucher disease, the gene that would normally tell the body to produce this enzyme is altered (often called a gene mutation).

The main signs and symptoms are an enlarged liver and spleen, low platelet and haemoglobin counts, and problems with bones and joints.

Gaucher disease symptoms vary widely and there are many people who live without any symptoms.

What are the signs & symptoms of Gaucher disease?

1. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008 Oct 4;372(9645):1263-71.
2. Charrow J. The Gaucher Registry: Demographics and Disease Characteristics of 1698 patients with Gaucher disease. Archives of Internal Medicine 2000;160:2835-2843
This leaflet hopes to answer questions about the inheritance of Gaucher disease.
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Watch a brief video about the causes of Gaucher disease.
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In this video Gaucher disease patients discuss how they were diagnosed.
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What are Lysosomal Storage Disorders?
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Visit the Spotlight on Gaucher YouTube channel to view Gaucher disease informational videos and stories from patients and families.
How is Gaucher disease diagnosed?
Symptoms Infographic
Symptoms Infographic
Download the Gaucher disease brochure for helpful information.

The information on this website is intended only to provide knowledge of Gaucher disease health topics. This information should not be used in place of advice from your GP or other healthcare professional. If in doubt please contact your doctor for advice.

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Download the Gaucher disease toolkit for helpful information and questions to discuss with your doctor.
Symptoms Infographic