Studies on Early Infantile Gangliosidosis GM

Abstract

Gangliosidosis is defined as the accumulation of Glycosphingolipids (Gangliosides) secondary to impairment in its metabolism due to a deficient enzyme or its activating factors. Sialylated Glycosphingolipids are especially abundant on neuronal outer membrane. Multiple studies have shown that Glycosphingolipids or their catabolites are involved in cell differentiation and morpho-genesis. The residual \(\beta\)-hexosaminidase activities, pre-\(\beta\)-polypeptide chain mRNA, and status of the HEXB gene predominantly determines the fate of the disease. In contrast, most of the primary gene defect is in the HEXB gene. The etiology and pathogenesis of Early infantile gangliosidosis are still not completely known. Since it's an autosomal recessive disease, the incidence of the disease can be decreased by Pre-marital screening of the individuals.