Abstract
Glycosphingolipids from the liver, kidney, and spleen of a patient with type 1 II3-N-acetylneuraminosylgangliotetraosylceramide (GM1)-gangliosidosis were quantita-tively analyzed. It was noted that large amounts of unusual glycosphingolipids other than GM1 ganglioside or gangliotetraosylceramide accumulated in the liver of the patient. Particularly, the prominent accumulation of III3-α-fucosylneolacto-tetraosylceramide, galactosylceramide I3-sulfate and cholesterol sulfate was observed in addition to a small but significant increase of galabiosylceramide and neolacto-or lactotetraosylceramide. None of these lipids except cholesterol sulfate can be detected in normal liver. None of the lipids accumulated in the liver can be the direct substrates for acid β-galactosidase which is deficient in the patient. Thus, it was suggested that secondary effects due to the defect in acid β-galactosidase might cause the abnormal accumulation of various lipids in the liver.
