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Enzymes

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The Gangliosidoses

Abstract

The “sphingolipidoses” constitute a group of heritable diseases involving storage of various glycosphingolipids mainly in the central nervous system.1 There are two major types of neural glycosphingolipids; cerebroside and its sulfate ester, sulfatide, are characteristic of white matter, and gangliosides are characteristic of gray matter. Storage of cerebrosides are found in Gaucher’s disease (glycosylceramide),2 Fabry’s disease (galactosylgalactosylglucosylceramide),3 Krabbe’s disease (galactosylceramide),4 lactosylceramide lipidosis,5 metachromatic leukodystrophy (galactosyl-3-sulfate ceramide),6 Niemann-Pick disease (phosphorylcholine ester of ceramide),7 and fucosidosis (tetra- and pentahexoside ceramide).8 There are six known gangliosidoses. Three of these, Tay-Sachs disease (TSD),9 late infantile lipidosis,10,11 and Sandhoff’s disease12 involve mainly storage of the GM2-ganglioside in brain tissue. Two others, Norman-Landing disease,13 or general gangliosidosis,14 and Derry’s disease,15 or juvenile gangliosidosis,14 result in an accumulation of the GM1-ganglioside in brain and other tissues. A disorder of ganglioside metabolism with storage of both GM2- and GM3-gangliosides has been reported in a single patient by Pilz et al.16

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  1. Isaac Albert Research Institute, Kingsbrook Medical Center, USA

    Abraham Saifer

  2. Touro College, Brooklyn, New York, USA

    Abraham Saifer

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    Bruno W. Volk  & Larry Schneck  & 

  2. Downstate Medical Center, State University of New York, Brooklyn, New York, USA

    Bruno W. Volk  & Larry Schneck  & 

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Saifer, A. (1975). Enzymes. In: Volk, B.W., Schneck, L. (eds) The Gangliosidoses. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-8726-2_3

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