While I was researching this article, a photo of a little girl with a big belly like that of a pregnant woman caught my attention. It looks like she swallowed a big balloon. But this was due to symptoms of a genetic disorder called "Gaucher disease", named after Philippe Gaucher, a medical student in Paris. Gaucher in 1882 discovered a young woman with abnormally large cells in her spleen, and similarly, about ten years later, a six-year-old boy was also diagnosed with the same condition, also called "Gaucher's disease." , according to Philippe Gaucher. Figure 1 Location of the GBA gene on chromosome 1 / http://ghr.nlm.nih.gov/gene/GBA In our body, many different enzymes contribute to the fragmentation of macromolecules into smaller molecules. Gaucher disease occurs when an enzyme called β – glucocerebrosidase is unable to break down the fatty substance into one small sugar molecule and one fat molecule. This is due to mutations in the GBA gene, the Glucosidase Beta Acid gene, which is located on chromosome 1, specifically base pairs 155,234,447 to 155,244,861.1 This gene codes for the enzyme “β – glucocerebrosidase” which is active in lysosomes, essentially a vesicle containing many enzymes. responsible for breaking down dead cells or digesting food. Since its work is essential in maintaining basic cellular functions of our body, we can easily find this gene in many cells under various conditions called "housekeeping gene/enzyme". Mutations in the GBA gene affect β-glucocerebrosidase activities and associated substances cannot be broken down further; thus, leading to a natural accumulation of white blood cells in the liver, lungs, bone marrow, spleen and other organs. This abnormal storage of substances is characterized...... middle of paper ......be advised and required. Orthopedic surgical techniques are used to relieve pressure on damaged bone areas. And the installation of prostheses is granted to those whose joints have been damaged by Gaucher disease. While bone marrow transplants used to be given as a treatment to seriously ill people, due to the high-risk procedure and the need for precisely matched donors, this operation is rarely performed and is otherwise reserved for terminally ill patients. . In addition to the therapies listed above, a drug named "Zavesca" has been approved to act as an inhibitor of one of the key enzymes responsible for the formation of glycosphingolipids, such as glucocerebroside. In addition, osteoporosis and bone medications, such as “Fosamax or Alendronate, Didronel or Etidronate and Pamidronate, are prescribed to treat Gaucher patients with bone disease..