GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects

GM1 gangliosidosis is a lysosomal storage disorder due to deficiency of the β-galactosidase enzyme. This deficiency results in accumulation of GM1 gangliosides and related glycoconjugates in the lysosomes leading to lysosomal swelling, cellular damage, and organ dysfunction. The disease is lethal in the infantile and juvenile forms. To date, up to 102 mutations distributed along the β-galactosidase gene (GLB1) have been reported. This review gives an overview of the clinical and molecular findings in patients with GM1 gangliosidosis. Furthermore, it describes therapeutic approaches which are currently under investigation in animal models of the disease.