GLB1-related disorders: GM1 gangliosidosis and Morquio B disease
Journal of Genetic Medicine
; : 16-23, 2021.
Article
em En
| WPRIM
| ID: wpr-891630
Biblioteca responsável:
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.
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Índice:
WPRIM
Idioma:
En
Revista:
Journal of Genetic Medicine
Ano de publicação:
2021
Tipo de documento:
Article