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Disorders of Sphingolipid Metabolism

  • Chapter
Biology of Brain Dysfunction

Abstract

The last 10 years have witnessed dramatic and accelerating progress in investigations of the group of genetic disorders commonly categorized as lipid storage diseases. Except for a few diseases, including Refsum’s disease and Wolman’s disease, most of the lipid storage diseases involve inborn errors of metabolism of a particular type of complex lipids that are characterized by acylsphingosine as the common building block, hence the name sphingolipidoses. Clinical delineation of individual sphingolipidoses dates back to 1881, when Warren Tay, a British ophthalmologist, first described the characteristic retinal finding of what was to become known later as Tay-Sachs disease.

The work from the authors’ laboratories was supported by research grants NS-08420 and NS-09093 from the United States Public Health Service and by research grants 670-A-1 (Inex J. Warriner Memorial Grant for Research on Multiple Sclerosis) and 670-B-2 from the National Multiple Sclerosis Society.

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  1. The Saul R. Korey Department of Neurology and Department of Pathology Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York, USA

    Kunihiko Suzuki & Kinuko Suzuki

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  1. Kunihiko Suzuki
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  1. New York State Institute for Basic Research in Mental Retardation, Staten Island, New York, USA

    Gerald E. Gaull

  2. Mount Sinai School of Medicine, City University of New York, New York, New York, USA

    Gerald E. Gaull

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Suzuki, K., Suzuki, K. (1973). Disorders of Sphingolipid Metabolism. In: Gaull, G.E. (eds) Biology of Brain Dysfunction. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-2670-0_1

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