Aug. 25, 2023
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GM1 gangliosidosis is a lysosomal storage disorder that causes neurodegeneration. It is caused by a deficiency of beta-galactosidase. Three different phenotypes are known, including an infantile variant (type 1), a juvenile form (type 2), and an adult or chronic form. Morquio B disease is also due to mutations in beta-galactosidase but does not result in neurodegeneration. In this article, the authors review the history, pathogenesis, and therapeutic approaches (both current and experimental) for these conditions.
• GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency in beta-galactosidase.
• There are three main phenotypes: infantile, juvenile, and adult.
• The pathogenesis of GM1 gangliosidosis is multifactorial and includes mitochondrial dysfunction and neuroinflammation.
• Enzyme activity, single gene testing, and whole exome sequencing can be used to make a diagnosis of GM1 gangliosidosis.
• Various therapeutic approaches are being considered in GM1 gangliosidosis.
Ganglioside storage diseases are a heterogeneous group of inherited disorders characterized by progressive neurologic deterioration and the intraneuronal accumulation of gangliosides and their complex metabolites.
Landing and colleagues first recognized GM1 gangliosidosis as a distinct entity in 1964 (17). The associated enzymatic deficiency of beta-galactosidase was later identified in the brain, liver, spleen, and kidney as well as in white blood cells shortly thereafter (25).
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