GAUCHER`S DISEASE: DIAGNOSIS, ENZYME REPLACEMENT THERAPY, AND PHARMACEUTICAL FORMULATIONS IN TREATMENT– A COMPREHENSIVE REVIEW

Abstract

Gaucher's disease (GD) is the most common lysosomal storage disorder caused by mutations in the GBA1 gene, resulting in deficiency of the enzyme β-glucocerebrosidase. This leads to the accumulation of glucosylceramide within macrophages, causing progressive involvement of the liver, spleen, bone marrow, and, in severe cases, the central nervous system. Clinical manifestations include hepatosplenomegaly, anemia, thrombocytopenia, skeletal abnormalities, and neurological complications. Recent advances in diagnostic techniques, including enzyme assays, molecular genetic testing, and biomarker analysis, have improved early detection and disease monitoring. Enzyme replacement therapy (ERT) remains the standard treatment, while substrate reduction therapy (SRT) provides an alternative for selected patients. Advances in pharmaceutical formulations, including liposomal and nanoparticle-based drug delivery systems, have enhanced therapeutic efficacy and patient compliance. Emerging approaches such as gene therapy offer promising prospects for long-term disease management. This review summarizes the epidemiology, pathophysiology, clinical features, diagnosis, current treatment strategies, and recent pharmaceutical advancements in Gaucher's disease, highlighting future directions for improving patient outcomes.