Definition
Gangliosidosis contains different types of lipid storage disorders caused by the accumulation of lipids called gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops. The two main types of gangliosidosis are GM1 gangliosidosis and GM2 gangliosidosis, and these have two distinct genetic causes. Both types are autosomal recessive, meaning that both copies of the gene in each cell have the mutation, and affect males and females equally. This disorder occurs in 1 in 100,000–200,000 newborns.
GM1 gangliosidosis is an inherited disorder caused by mutations in the GLB1 gene, which is a gene that provides instructions for making an enzyme called beta-galactosidase and is located in the lysosomes. Beta-galactosidase helps break down several molecules including the GM1 ganglioside and is important for normal functioning of nerve...
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Lecarie, E. (2018). Gangliosidoses. In: Volkmar, F. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6435-8_102076-1
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DOI: https://doi.org/10.1007/978-1-4614-6435-8_102076-1
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