Gaucher Disease

Gaucher Disease is the most common lysosomal storage disorder, caused by deficiency of the enzyme glucocerebrosidase (also called beta-glucosidase). This enzyme is responsible for breaking down a fatty substance called glucocerebroside. When the enzyme is deficient, glucocerebroside accumulates in cells called macrophages, particularly in the spleen, liver, and bone marrow.

There are three main types of Gaucher disease. Type 1 (non-neuronopathic) is the most common form and does not affect the brain. It can appear at any age and ranges from mild to severe. Types 2 and 3 are neuronopathic forms that involve progressive neurological damage; Type 2 is more severe and appears in infancy, while Type 3 has a later onset and slower progression.

Common symptoms of Type 1 Gaucher disease include enlarged spleen and liver, anemia, low platelet count leading to easy bruising and bleeding, bone pain and fractures, and fatigue. The condition is particularly prevalent among Ashkenazi Jews, where the carrier frequency is approximately 1 in 10. However, Gaucher disease occurs in all ethnic groups.

Gaucher disease is caused by mutations in the GBA gene and is inherited in an autosomal recessive pattern. Enzyme replacement therapy (ERT) and substrate reduction therapy are effective treatments for Type 1 disease. Interestingly, carriers of GBA mutations have an increased risk of developing Parkinson's disease, highlighting the importance of genetic testing.

NutraHacker examines the following gene related to Gaucher Disease:

• GBA

For more information about your own genetic profile as related to Gaucher Disease, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.