Article

Plasma exchange removes glycosphingolipid in Fabry disease

  1. Reed E. Pyeritz MD,PhD1,*,
  2. M. David Ullman5,
  3. Ann B. Moser4,
  4. Hayden G. Braine1,2,
  5. Hugo W. Moser3,4,
  6. John M. Optiz Editor

Article first published online: 2 JUN 2005

DOI: 10.1002/ajmg.1320070308

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 7, Issue 3, pages 301–307, 1980

Additional Information

How to Cite

Pyeritz, R. E., Ullman, M. D., Moser, A. B., Braine, H. G., Moser, H. W. and Optiz, J. M. (1980), Plasma exchange removes glycosphingolipid in Fabry disease. American Journal of Medical Genetics, 7: 301–307. doi: 10.1002/ajmg.1320070308

Author Information

  1. 1

    Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland

  2. 2

    Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland

  3. 3

    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland

  4. 4

    John F. Kennedy Institute, Baltimore, Maryland

  5. 5

    Center for Disease Control, Atlanta, Georgia

*Moore Clinic, Johns Hopkins Hospital, Baltimore, MD 21205

Publication History

  1. Issue published online: 2 JUN 2005
  2. Article first published online: 2 JUN 2005
  3. Manuscript Revised: 21 JUN 1980
  4. Manuscript Received: 16 MAY 1980

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Keywords:

  • lysosome;
  • storage disease;
  • glycosphingolipid;
  • plasma exchange;
  • Fabry disease;
  • ceramide trihexosidase deficiency;
  • α-galactosidase deficiency;
  • X-linked inheritance;
  • high performance liquid chromatography

Abstract

In a man with Fabry disease, basal plasma glycosphingolipid (GSL) levels were determined by high-performance liquid chromatography (HPLC). A series of three alternate-day plasma exchanges transiently lowered plasma ceramide trihexoside (CTH) to normal. A total of 70 μmoles of CTH were removed by eight plasma exchanges. If future studies show that pathologic tissue accumulations of CTH are reduced by plasma exchange, then long-term repetitive plasma exchange could be used as treatment until enzyme replacement is practical.

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