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KMID : 1189120210180010016
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대한의학유전학회지
2021 Volume.18 No. 1 p.16 ~ p.23
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GLB1-related disorders: GM1 gangliosidosis and Morquio B disease
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Cho Sung-Yoon
Jin Dong-Kyu
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Abstract
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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.
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KEYWORD
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GM1 gangliosidosis, Mucopolysaccharidoses IVB, Morquio B disease, Beta-galactosidase, GLB1
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