Hepatic glycosphingolipid abnormalities in a patient with GM1-gangliosidosis.

Glycosphingolipids from the liver, kidney, and spleen of a patient with type 1 II3-N-acetylneuraminosylgangliotetraosylceramide (GM1)-gangliosidosis were quantitatively analyzed. It was noted that large amounts of unusual glycosphingolipids other than GM1 ganglioside or gangliotetrasylceramide accumulated in the liver of the patient. Particularly, the prominent accumulation of III3-alpha-fucosylneolactotetraosylceramide, 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 beta-galactosidase which is deficient in the patient. Thus, it was suggested that secondary effects due to the defect in acid beta-galactosidase might cause the abnormal accumulation of various lipids in the liver.