Gaucher Disease By: Mihir Lovalekar

Lysosomes are a vital part of every cell. They are used to take out excess materials and waste from the cell. In Gaucher Disease, cells do not have enough glucosylceramidase, a enzyme that brakes down a fatty chemical called glucocerebroside. When the body cannot break down this chemical, fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow. The gene that causes Gaucher Disease is called GBA. This gene codes for a protein called glucosylceramidase. Mutations make a stop codon appear in the middle of the code, breaking it up and preventing glucosylceramidase from forming.

Gaucher Disease was first discovered by Phillippe Gaucher in 1882. He saw large cells in a extremely enlarged spleen. Glucocerebroside was discovered to affect Gaucher disease in 1934 by a French chemist named A. Aghion, and in the 1960's, Dr. Brady Roscoe found that people with Gaucher disease made the lipid normally but did not make enough of the enzyme glucocerebrosidase to break it down. In 1987, Dr. Shoji Tsuji found the first gene mutation that causes Gaucher disease.

Gaucher disease is a autosomal recessive genetic disease, meaning that both of the glucocerebrosdiase genes a person inherits must be mutated for the person to have Gaucher Disease. In the U.S., the incidence rate is 1:40,000-60,000, while the incidence rate in the world is 1: 57,000-75,000. This rate is slightly higher in Ashkenazi Jews, where it is 1:500-800 in the US, and 1:800 in the world.

Those who have Gaucher Disease usually have a swollen belly, spleen and liver enlargement, bleeding and bruising problems, bone pain, easily fractured bones, anemia and fatigue. Doctors use a blood test called a BGL test to check enzyme activity and diagnose Gaucher Disease. However, any patients undergo invasive bone marrow testing before receiving a diagnosis as doctors try to rule out leukemia and blood cancers. Gaucher Disease can be treated by two different therapies, enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). In ERT, enzymes are added to balance the lysosomes, and less glucocerebroside is produced in SRT.

Gaucher Disease, when well managed, can allow for a healthy and active life. Although Gaucher Disease cannot be cured, treatment can prevent or improve signs and symptoms, also reducing the risk of irreversible tissue and organ damage. Recent advancements have shown promise to cure Gaucher, but no drug has been approved.

Works Cited

Bohra, Vijay, and Velu Nair. “Gaucher’s Disease.” Gaucher’s Disease, US National Library of Medicine National Institutes of Health, 2011.

Brady, Roscoe, Dr. “Researching Disease with Dr. Roscoe Brady & Gaucher’s Disease.” Researching Disease, Office of NIH History. Accessed 3 Feb. 2017.

The chart below shows how parents pass the Gaucher gene to their children. Gaucher Disease Inheritance and Genetics, National Gaucher Foundation,

“Gaucher Disease Inheritance and Genetics.” National Gaucher Foundation. Accessed 3 Feb. 2017.

“Gaucher Disease Prognosis and Life Expectancy.” National Gaucher Foundation. Accessed 3 Feb. 2017.

“GBA Glucosylceramidase Beta [ Homo Sapiens (human) ].” NCBI, National Center for Biotechnology Information. Accessed 3 Feb. 2017.

Incidence and Inheritance of Gaucher Disease. Gaucher Disease: An Interview with Dr Clement Olivier, Shire, News Medical - Medical & Life Sciences, Accessed 4 Feb. 2017.

“Researchers Make Advance in Possible Treatments for Gaucher, Parkinson’s Diseases.” National Human Genome Research Institute, 3 Sept. 2016. Accessed 3 Feb. 2017.

The Effects of Gaucher Disease in Lysosomes. Pathology Outlines. Accessed 4 Feb. 2017.

“Testing for Gaucher Disease.” National Gaucher Foundation, Accessed 5 Feb. 2017.

Weinreb, Neal J., et al. “Prevalence of Type 1 Gaucher Disease in the United States.” The JAMA Network, JAMA Internal Medicine, 2017. Accessed 3 Feb. 2017.

“What Is Gaucher Disease?” National Gaucher Foundation, Accessed 3 Feb. 2017.

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