Genotype Meets Phenotype: Unraveling Gaucher's Genetic Landscape in the Indian Population

Gaucher disease is the most common autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, leading to glucocerebrosidase deficiency and lipid accumulation in macrophages. In India, Gaucher disease poses a substantial public health issue among inborn errors of metabolism. This systematic review summarizes key clinical, genetic, and healthcare barriers of Gaucher disease in India. A total of nine Indian studies on Gaucher disease were systematically reviewed, integrating information on clinical presentations, diagnostic approaches, mutational landscape, treatment modalities, and survival trends. The review aims to detect consistent patterns and critical gaps in knowledge across distinct cohorts and geographic areas. Gaucher disease is the most prevalent lysosomal storage disorder reported among Indian cohorts, typically presenting with splenomegaly, hepatomegaly, anemia, and thrombocytopenia. The L444P mutation is the predominant genotypic variant observed. Enzyme replacement therapy improves survival, though access remains limited by cost. In India, Gaucher disease is marked by genotypic heterogeneity, dominated by the L444P variant, with outcomes depending on early and sustained treatment. Addressing diagnostic delays, infrastructure gaps, and cost barriers through national screening and registry systems is crucial.