We report the results of a fluorometric assay for α-galactosidase A (EC.3.2.1.22) in plasma and leukocytes, and fast atom bombardment/mass spectrometry (FAB/MS) analysis of glycosphingolipids in urine sediments from a patient with Fabry's disease. In plasma, this patient had only 5 · 0% of the normal amount of α-galactosidase A, and his brother and mother had 11 · 0% and 25 · 0%, respectively. In leukocytes, the activities were below 8 · 0%. Glycosphingolipids from urine sediments were partially purified using a Sep-Pack C18 cartridge.
The chemical diagnosis of Fabry's disease can be made more rapidly and accurately using fluorometric and FAB/MS analyses.
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