The identification of Fabry's disease with the examination of the lacrimal enzymes

M. Palfalvi, I. Kahanne Laszlo, B. Somlai

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Abstract

By examination of tears, the lack of alphagalactosidase, an enzyme, could be demonstrated and therefore Fabry's disease proved first in Hungary. On the basis of a typical history, the clinical picture of two patients (a 17 yr old male and a 32 yr old female) and histological examination performed on the male patient the possibility of Fabry's disease was suspected which suspicion could be confirmed by the measurement of lacrimal alpha-galactosidase enzyme activity too. With the application of 4-methyl-belliferyl-alpha-galactosidase substrate, the heat stable and heat labile alpha-galactosidase and the homozygous and heterozygous, respectively, nature of the patients could be proved.

Original languageEnglish
Pages (from-to)100-106
Number of pages7
JournalSzemeszet Ophthalmologica Hungarica
Volume119
Issue number2
Publication statusPublished - Jan 1 1982

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ASJC Scopus subject areas

  • Medicine(all)

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