LSDDB

GM2 gangliosidosis AB variant

This type of GM2 gangliosidosis is very rare. It is very similar in phenotype to the infantile form of Tay Sachs disease. GM2AB variant is caused due to mutation in GM2A gene which is responsible for production of β-Hexosaminidase (Sheth et al., 2016).

Reference :
Sheth, J. et al. (2016) ‘GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review’, BMC Pediatrics, 16(1), p. 88. doi: 10.1186/s12887-016-0626-6.