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Ganglioside Storage Diseases

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Advances in Human Genetics

Part of the book series: Advances in Human Genetics ((AHUG,volume 3))

Abstract

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.

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Authors and Affiliations

  1. Department of Neurosciences School of Medicine, University of California at San Diego, La Jolla, California, USA

    John S. O’Brien

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Editors and Affiliations

  1. The Galton Laboratory, University College London, London, England

    Harry Harris (Galton Professor of Human Genetics) (Galton Professor of Human Genetics)

  2. Division of Medical Genetics, Department of Pediatrics, Mount Sinai School of Medicine of The City University of New York, USA

    Kurt Hirschhorn (Arthur J. and Nellie Z. Cohen Professor of Genetics and Pediatrics) (Arthur J. and Nellie Z. Cohen Professor of Genetics and Pediatrics)

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O’Brien, J.S. (1972). Ganglioside Storage Diseases. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 3. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-4429-3_2

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  • DOI: https://doi.org/10.1007/978-1-4757-4429-3_2

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