GM1 gangliosidosis
GM1 gangliosidosis
Definition
A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
Also known as Beta-galactosidase-1 deficiency, gangliosidosis GM1, GLB1 deficiency, GM>1< gangliosidosis, Landing disease, Landing syndrome — per MONDO