Sandhoff’s Disease: Studies on the Enzyme Defect in Homozygotes and Detection of Heterozygotes

  • Edwin H. Kolodny
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 19)


Three varieties of GM2-gangliosidosis have been described. These can be distinguished by: their clinical presentation; the nature of lipid storage; and the nature of the enzyme deficiency. In Tay-Sachs disease, the most common form of GM2 -gangliosidosis, GM2 ganglioside accumulates within the nervous system and there is a deficiency of hexosaminidase A (1,2). In the United States, most of the children afflicted with this disease have been of Jewish parentage. A much rarer type of GM2-gangliosidosis known as Juvenile GM2-gangliosidosis (3,4,5) has in common with Tay-Sachs disease central nervous system accumulation of GM2 ganglioside and deficiency of hexosaminidase A. However, these biochemical abnormalities are less severe than in Tay-Sachs disease.


Enzyme Defect Metachromatic Leukodystrophy Sandhoff Disease Neutral Glycolipid Cellulose Acetate Electrophoresis 
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Copyright information

© Springer Science+Business Media New York 1972

Authors and Affiliations

  • Edwin H. Kolodny
    • 1
    • 2
  1. 1.Walter E. Fernald State SchoolEunice Kennedy Shriver Center for Mental Retardation, Inc.WalthamUSA
  2. 2.J.P. Kennedy Memorial LaboratoriesMassachusetts General HospitalBostonUSA

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