Plasma exchange removes glycosphingolipid in Fabry disease

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

doi:10.1002/ajmg.1320070308

Plasma exchange removes glycosphingolipid in Fabry disease

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

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 language	English (US)
Pages (from-to)	301-307
Number of pages	7
Journal	Unknown Journal
Volume	7
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.1320070308
State	Published - 1980

ASJC Scopus subject areas

Genetics(clinical)

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AU - Ullman, M. D.

AU - Moser, A. B.

AU - Braine, H. G.

AU - Moser, H. W.

PY - 1980

Y1 - 1980

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AB - 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.

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Plasma exchange removes glycosphingolipid in Fabry disease

Abstract

ASJC Scopus subject areas

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