Plasma exchange removes glycosphingolipid in Fabry disease

R. E. Pyeritz, M. D. Ullman, A. B. Moser, H. G. Braine, H. W. Moser

Research output: Contribution to journalArticle

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 CTK are reduced by plasma exchange, then long-term repetitive plasma exchange could be used as treatment until enzyme replacement is practical.

Original languageEnglish (US)
Pages (from-to)301-307
Number of pages7
JournalAmerican journal of medical genetics
Volume7
Issue number3
DOIs
StatePublished - Dec 1 1980

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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