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.
|Number of pages||7|
|Journal||Szemeszet Ophthalmologica Hungarica|
|Publication status||Published - Jan 1 1982|
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