Diagnosis of Fabry's Disease by Tear α-Galactosidase a

Monte A. Del Monte, Douglas L. Johnson, Edward Cotlier, William Krivit, Robert J. Desnick

Research output: Contribution to journalLetterpeer-review

1 Scopus citations

Abstract

To the Editor: The recent reports by Cotlier and Singer1 and by Carmody et al.2 indicate the advantages of human tears for the enzymatic diagnosis of homozygotes and especially heterozygotes for Tay-Sachs disease. In fact, the ease of collection and relative stability as compared to other tissue or fluid sources may make tears the enzyme source of choice for the convenient screening and diagnosis of many other inherited enzymatic deficiencies. We now report the extension of this technique for the diagnosis of hemizygotes and heterozygotes with Fabry's disease by the demonstration of deficient tear α-galactosidase A activity. Tears, fresh heparinized.

Original languageEnglish
Pages (from-to)57-58
Number of pages2
JournalNew England Journal of Medicine
Volume290
Issue number1
DOIs
StatePublished - 3 Jan 1974
Externally publishedYes

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