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Sandhoff-Jatzkewitz disease

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A disease clinically similar to Tay-Sachs disease but far more rare, and without predilection for any ethnic or racial group.

In Sandhoff's disease two essential enzymes (hexosaminidase A and B) for metabolising ganglioside are absent (in Tay-Sachs disease only one enzyme, hexosaminidase A, is absent). This causes deposition of gangliosid in the central nervous system and the cardiovascular system, resulting in idiotia amaurotica. Onset at about six months of age with weakness startle reaction to sound; blindness, progressive mental and motor deterioration, doll-like facies, cherry-red spots of the retina. Frequent respiratory infections and fatal pneumonia by the age of 3 years. Inheritance is autosomal recessive.


  • Horst Jatzkewitz, Hartmut Pilz und Konrad Sandhoff:
    Quantitative Bestimmungen von Gangliosiden und ihren neuraminsäurefreien Derivaten bei infantilen, juvenilen und adulten Formen der amaurotischen Idiotie und einer spätinfantilen biochemischen Sonderform.
    The quantitative determination of gangliosides and their derivatives in different forms of amaurotic idiocy.
    Journal of Neurochemistry, March 1965, 12 (3): 135.
  • Hartmut Pilz:
    Die Krankheitsgruppe der amaurotischen Idiotien: Korrelation von biochemischen Befunden und klinischen Verlaufsformen.
    Journal of Neurology, September 1968, 194 (3): 187-218.
  • K. Sandhoff, U. Andreae, H. Jatzkewitz:
    Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs.
    Life Sciences, Oxford, March 15, 1968, 7 (6): 283-288.
    Pathologia europaea, London, 1968, 3 (2): 278.
  • K. Sandhoff, K. Harzer, W. Wassle, H. Jatzkewitz:
    Enzyme alterations and lipid storage in three variants of Tay-Sachs disease.
    Journal of Neurochemistry, 1971, 18: 2469-2489.
  • K. Sandhoff, K. Harzer:
    Total hexosaminidase deficiency in Tay-Sachs disease (variant 0).
    In H. G. Hero, F. Van Hoff (editors): Lysosomes and Storage Diseases. New York, Academic, 1973: 345.
  • J. S. O'Brien:
    Ganglioside storage diseases. In: H. Harris, K. Hirschhorn: Advances in Human Genetics. New York: Plenum Press 3 1971. Pp. 39-98.
  • E. Conzelmann, K.Sandhoff:
    AB variant of infantile Gm2-gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside Gm2 and glycolipid Ga2.
    Proceedings of the National Academy of Sciences of the United States of America, 1978, 75: 3979-3983
  • J. S. O’Brien:
    The gangliosidoses.
    In: J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, editors: The metabolic basis of inherited disease. 4th edition: New York, McGeaw-Hill, 1978, pp 841-865.
  • M. Schroder, D. Schnabel, K. Suzuki, K. Sandhoff:
    A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.
    FEBS Letters, Amsterdam, 1991, 290: 1-3.

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