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Gaucher Disease

What is Gaucher Disease?

Gaucher (go-SHAY) disease is a rare, inherited genetic disorder. While Gaucher disease is rare, it is one of the most common of what are called lysosomal storage disorders. These are disorders in which the body does not make certain enzymes as it should. People with Gaucher disease do not make enough of the enzyme glucocerebrosidase (GCase). Without this enzyme, Gaucher fat cells build up in the spleen, liver, and bone marrow. Gaucher disease is caused by a change (mutation) in the GBA gene. Both parents have to carry and pass on the mutation for their baby to develop Gaucher disease. About 6,000 people in the United States are living with the condition.(1-3)

Other condition names

  • Acid beta-glucosidase deficiency
  • Glucocerebrosidase deficiency

Inheritance type

Autosomal recessive

Prevalence

  • Europe: 1-9 in 100,000

Age of Onset

  • All ages

  1. What Is Gaucher Disease? National Gaucher Foundation. Available at https://www.gaucherdisease.org/about-gaucher-disease/what-is. Accessed 6/13/2022.

  2. Gaucher Disease. National Organization of Rare Disorders. Available at https://rarediseases.org/rare-diseases/gaucher-disease. Accessed 6/13/2022.

  3. Gaucher Disease. National Institute of Neurological Disorders and Stroke. Available at https://www.ninds.nih.gov/health-information/disorders/gaucher-disease. Accessed 6/13/2022.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.