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.
Introduction
Pathogenesis of GLB1-related Disorders
Clinical and Radiographic Characteristics of GM1 Gangliosidosis
Diagnosis of GM1 Gangliosidosis
Clinical and Radiographic Characteristics of Morquio B Disease
Diagnosis of Morquio B Disease
Overlap between Morquio B Disease, MPS IVA, and GM1 Gangliosidosis
Preclinical and Clinical Trials of GLB1-related Disorders
Conclusion
Acknowledgements
Authors’ Contributions
References