GM1 gangliosidosis is a lysosomal storage disorder caused by a deficiency of beta-galactosidase-1. There are 3 phenotypes: infantile, juvenile, and adult. The infantile variant is the most severe form and results in neurologic impairment caused by accumulation of GM1 gangliosides, typically within the first 6 months of life. Other features include a macular cherry-red spot, coarse facies, and hepatosplenomegaly.
May. 25, 2019