Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain. Sandhoff's disease (variant of Tay-Sachs disease)

William Krivit, Robert J. Desnick, J. Lee, J. Moller, Francis Wright, Charles C. Sweeley, Paul D. Snyder, Harvey L. Sharp

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36 Scopus citations


Recently, an inborn error of glycosphingolipid metabolism was described in which activities of beta-N-acetylhexosaminidase A and B were totally deficient. This resulted in the accumulation of two neutral glycosphingolipids, globoside and asialo GM2 ganglioside in the brain. The systemic storage of a particular type of glycosphingolipid results in specific anatomic and pathophysiologic manifestations. Our patient had cardiovascular symptoms prior to the development of signs of central nervous system degeneration. Multiple lamellar cytoplasmic inclusion bodies were visualized under electron microscopy in every tissue examined. The diagnosis was confirmed by extensive biochemical analysis of tissue glycosphingolipids. Biochemical diagnosis during life can be accomplished by the demonstration of elevated levels of globoside* * The use of the term globoside indicates the presence of galactosamine (GalNAc), galactose (Gal), glucose (Glc), sphingosine base and fatty acid in molar ratio of 1:2:1:1:1, and assignment of the galNAc to the terminal position, but does not indicate the stereochemistry and linkages of the respective sugar moieties. in plasma and urinary sediment as well as deficient activities of hexosaminidase A and B.

Original languageEnglish (US)
Pages (from-to)763-770
Number of pages8
JournalThe American Journal of Medicine
Issue number6
StatePublished - Jun 1972

Bibliographical note

Funding Information:
From the Department of Pediatrics, the Dight Institute for Human Genetics, and the Departments of Pathology and Neurology of the University of Minnesota Medical School, Minneapolis, Minnesota, and the Department of Biochemistry, Michigan State University, East Lansing, Miichigan. This study was supported by grants from the U.S. Public Health Service (AM14470, CA08101 and CA08832), the National Cystic Fibrosis Foundatio,n and the General Resea.rch Support Program, University of Minnesota. Requests for reprints should be addressed to Dr. William Krivit, Department of Pediatrics, University of Minnesota Medical School, Box 284, Mayo Memorial Building, Minneapolis, Minnesota 55455. Manuscript received June 21, 1971; revised September 8, 1971.


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