Gangliosidoses

The gangliosidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes (or their activator protein partners) that catabolize glycosphingolipids known as gangliosides. The disorders are named according to the dominant species of accumulating ganglioside (i.e., GM1 or GM2). The most severe phenotypes present as rapidly progressive neurodegenerative disorders in infancy; cherry-red spots occur in both GM1 and GM2 gangliosidosis. Less profound enzyme deficiencies present later in life with less severe, fragmentary phenotypes that may mimic other diseases, such as spinocerebellar degenerations.