Conclusion:

A severe LSD supported by intricate pathophysiological pathways is GM1 gangliosidosis. GLB1 mutations
causing a variety of diseases have been documented. However, because of the method the enzyme is
often tested in patient samples, it has been challenging to demonstrate a correlation between genotype
and phenotype. Additionally, post-translational and regulatory mechanisms controlling GM1 catabolism
may have a significant impact on a patient's clinical outcome, and these mechanisms may differ from
patient to patient. These warnings call for more research to clarify the cellular pathophysiology behind
this illness, which could advance our knowledge of the basic cell biology of GM1 ganglioside and the
complex of enzymes that controls its degradation in the lysosome. Pre-clinical trials of numerous
treatments have benefited from the use of multiple mice models of this illness, several of which are
currently in clinical trials.

References:
1. Tifft, C., Adams, D., and Morgan, C.(2007). 55 Miglustat improves function in patients
with juvenile GM gangliosidosis. Mol. Genet. Metab. 4:24
2. Rha, A. K., Maguire, A. S., and Martin, D. R. (2021). GM1 gangliosidosis: mechanisms
and management.Appl.Clin. Genet. 14, 209–233.doi:10.2147/TACG.S206076.
3. Kolter, T. (2012). Ganglioside biochemistry. ISRN Biochem.2012:506160.
doi:10.5402/2012/506160.

Future aspects:
A treatment, surgery, or cure for GM1 gangliosidosis is not available. The goal of treatment is
to maximize the patient's quality of life by reducing their particular symptoms. For example,
anticonvulsant medications such as gabapentin and a ketogenic diet (keto diet) may help
reduce seizures.