Gaucher disease, a rare and inherited lysosomal storage disorder, represents both a challenge and an opportunity in modern medicine. Caused by mutations in the GBA gene, this disease results in the deficiency of the enzyme glucocerebrosidase. Without this enzyme, harmful fatty substances accumulate in various organs and tissues, particularly the spleen, liver, and bone marrow. Although rare, Gaucher disease has become a focal point for groundbreaking therapeutic strategies, thanks to advancements in genetic research, biotechnology, and personalized medicine.
There are three clinical types of Gaucher disease. Type 1 is the most common and non-neuronopathic, meaning it does not affect the brain or spinal cord. Types 2 and 3, which are more severe, involve neurological complications. The disease varies widely in its manifestations, from mild symptoms to life-threatening complications, making early diagnosis and tailored treatment essential.
Historically, enzyme replacement therapy (ERT) has been the cornerstone of Gaucher disease treatment. First introduced in…
