Gaucher Disease: A Comprehensive Review

Abstract Gaucher disease (GD) is a rare lysosomal storage disorder caused by mutations in the GBA1 gene, which encodes the enzyme glucocerebrosidase. This deficiency results in the accumulation of glucocerebroside in macrophages, leading to multi-organ involvement. GD manifests in three main types, each with distinct clinical features. Recent advancements in enzyme replacement therapy (ERT), substrate reduction therapy (SRT), and novel treatment strategies such as gene therapy have improved patient outcomes significantly. This review explores the pathophysiology, clinical manifestations, diagnostic approaches, treatment modalities, and future prospects for managing Gaucher disease.