In GM2 gangliosidosis, the accumulation of GM2 ganglioside is caused by an inherited deficiency of the lysosomal acid β-hexosaminidase A or GM2 activator protein in GM2 gangliosidosis, and the disease is accordingly categorized into three variants: Tay-Sachs disease (B variant), Sandhoff disease (0 variant), and GM2 activator protein deficiency (AB variant) [3]. The gene discussed is GM2A; the disease is hyperinsulinemic hypoglycemia, familial, 4.