Journal of Lipid Research, Vol. 11, 241-247, May 1970
Copyright © 1970 by Lipid Research, Inc.

Glycolipid abnormalities in a myoclonic variant of late infantile amaurotic idiocy

Guenter G. Bartsch

Physiologisch-Chemisches Institut der Universitaet, Cologne, Germany

Glycolipids were isolated from the brain of a patient with a myoclonic variant of late infantile amaurotic idiocy. There was an abnormal glycolipid pattern in gray and white matter. The observed high concentration of gangliosides was due to a uniform accumulation of all four major gangliosides and was not limited to one species such as ganglioside A₁, as in Tay-Sachs disease, or ganglioside A₂, as in gangliosidosis-G_m1. Two additional stored substances were identified as ceramide lactoside and ceramide tetrahexoside. Partial and total hydrolysis of these ceramide hexosides revealed that their ceramide moiety is identical with the ceramide portion of gangliosides. The sequence of hexoses in the carbohydrate chain of the ceramide dihexoside and ceramide tetrahexoside further suggests a metabolic and chemical relation to gangliosides. Some implications of these findings for the theories of the metabolic defects in gangliosidoses are discussed.

Supplementary key words Tay-Sachs disease • gangliosidosis-G_M1 • gangliosides • ceramide lactoside • ceramide tetrahexoside • gray matter • white matter

Submitted on June 16, 1969
Revised on December 29, 1969
Accepted on February 2, 1970

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