Characterization of Neutral and Acidic Glycosphingolipids in Brains of Two Patients with GM1 Gangliosidosis Type 1 and Type 2

Brains of two patients with GM1 gangliosidosis type 1 and type 2, together with the age-matched control brains, were analyzed for glycosphingolipids. Six species of neutral glycolipids, eight species of gangliosides, and sulfatide were isolated from the diseased brains and identified. In addition to GM1 ganglioside and its asialo derivative, the diseased brains accumulated considerable amounts of gangliotriaosylceramide and glycolipids belonging to the globo series, the accumulation of which cannot be explained by deficient beta-galactosidase activity in this disease. GM4 ganglioside was detected in the type 2 brain, but not in type 1. As to fatty acid composition of monohexosylceramides and sulfatide in the two diseased brains, stearic acid was more predominant in the type 1 brain than in the type 2 brain. In light of our previous observations on a Tay-Sachs brain and present results, it appears that metabolism of the globo series glycolipids, which is active in normal brain at early infancy but inactive thereafter, remains in brains with GM1 gangliosidosis (types 1 and 2) and Tay-Sachs disease, reflecting a disturbance in development of the brain.