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GLB1-related disorders: GM1 gangliosidosis and Morquio B disease
Article in En | WPRIM | ID: wpr-899334
Responsible library: WPRO
ABSTRACT
GLB1-related disorders comprise two phenotypically unique disorders: GM1 gangliosidosis and Morquio B disease. These autosomal recessive disorders are caused by b-galactosidase deficiency. A hallmark of GM1 gangliosidosis is central nervous system degeneration where ganglioside synthesis is highest. The accumulation of keratan sulfate is the suspected cause of the bone findings in Morquio B disease. GM1 gangliosidosis is clinically characterized by a neurodegenerative disorder associated with dysostosis multiplex, while Morquio B disease is characterized by severe skeletal manifestations and the preservation of intelligence. Morquio B disease and GM1 gangliosidosis may be on a continuum of skeletal involvement. There is currently no effective treatment for GLB1-related disorders. Recently, multiple interventions have been developed and there are several ongoing clinical trials.
Full text: 1 Index: WPRIM Language: En Journal: Journal of Genetic Medicine Year: 2021 Type: Article
Full text: 1 Index: WPRIM Language: En Journal: Journal of Genetic Medicine Year: 2021 Type: Article