Ganglioside Storage Diseases

  • John S. O’Brien
Part of the Advances in Human Genetics book series (AHUG, volume 3)


For almost 100 years Tay-Sachs disease was the only ganglioside storage disease known. A second inborn error of ganglioside metabolism, generalized gangliosidosis, was discovered in 1965.13,35 Three additional ganglioside storage diseases have recently been uncovered,4,3,52,66,74 bringing the total to five.36 Of these, three involve storage of ganglioside GM2, and two involve storage of ganglioside GM1. Another disorder, possibly a GM3 gangliosidosis, has been reported in a single patient,46 but owing to limited information, it will not be considered here.


Keratan Sulfate Amniotic Cell Sachs Disease Profound Deficiency Amaurotic Idiocy 
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Copyright information

© Springer Science+Business Media New York 1972

Authors and Affiliations

  • John S. O’Brien
    • 1
  1. 1.Department of Neurosciences School of MedicineUniversity of California at San DiegoLa JollaUSA

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