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Bookmark or Share- GM1 Gangliosidosis | Boston Children's HospitalGM1 gangliosidosis, also called beta-galactosidase-1 deficiency, is a genetic disorder that progressively destroys nerve cells in the brain and spinal cord. Learn more from Boston Children's Hospital.
- GM1 Gangliosidosis: Mechanisms and Management - PMCThe lysosomal storage disorder, GM1 gangliosidosis (GM1), is a neurodegenerative condition resulting from deficiency of the enzyme β-galactosidase (β-gal). Mutation of the GLB1 gene, which codes for β-gal, prevents cleavage of the terminal β-1,4-linked galactose residue from GM1 ganglioside.
- GM1 Gangliosidosis—A Mini-Review - PMC - National Center for ...GM1 gangliosidosis is a progressive, neurosomatic, lysosomal storage disorder caused by mutations in the GLB1 gene encoding the enzyme β-galactosidase. Absent or reduced β-galactosidase activity leads to the accumulation of β-linked galactose-containing glycoconjugates including the glycosphingolipid (GSL) GM1-ganglioside in neuronal tissue.
- GM1 Gangliosidosis: Mechanisms and Management - PubMedThe lysosomal storage disorder, GM1 gangliosidosis (GM1), is a neurodegenerative condition resulting from deficiency of the enzyme β-galactosidase (β-gal). Mutation of the GLB1 gene, which codes for β-gal, prevents cleavage of the terminal β-1,4-linked galactose residue from GM1 ganglioside.
- Gangliosidoses - National Institute of Neurological Disorders and StrokeThe GM1 gangliosidoses are caused by a deficiency of the enzyme beta-galactosidase and has three clinical subtypes: Early infantile GM1 gangliosidosis is the most severe, with onset shortly after birth. Other complications include liver and spleen enlargement, skeletal irregularities, joint stiffness, and distended abdomen.
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