Plasma exchange removes glycosphingolipid in Fabry disease

R. E. Pyeritz, M. D. Ullman, Ann 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 - 1980

Fingerprint

Fabry Disease
Glycosphingolipids
Plasma Exchange
High Pressure Liquid Chromatography
Enzymes
ceramide trihexoside

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Plasma exchange removes glycosphingolipid in Fabry disease. / Pyeritz, R. E.; Ullman, M. D.; Moser, Ann B.; Braine, H. G.; Moser, H. W.

In: American Journal of Medical Genetics, Vol. 7, No. 3, 1980, p. 301-307.

Research output: Contribution to journalArticle

Pyeritz, R. E. ; Ullman, M. D. ; Moser, Ann B. ; Braine, H. G. ; Moser, H. W. / Plasma exchange removes glycosphingolipid in Fabry disease. In: American Journal of Medical Genetics. 1980 ; Vol. 7, No. 3. pp. 301-307.
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