J Genet Med.  2021 Jun;18(1):16-23. 10.5734/JGM.2021.18.1.16.

GLB1-related disorders: GM1 gangliosidosis and Morquio B disease

• Cho SY
• Jin DK

• KMID: 2517207
• DOI: http://doi.org/10.5734/JGM.2021.18.1.16

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.

Keyword

GM1 gangliosidosis; Mucopolysaccharidoses IVB; Morquio B disease; Beta-galactosidase; GLB1