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  • Updated 03.15.2023
  • Released 11.04.1993
  • Expires For CME 03.15.2026

GM1 gangliosidosis



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.

Key points

• 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.

Historical note and terminology

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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