title: Chemical diagnosis of Fabry's disease by fluorometric assay and fast atom bombardment/mass spectrometry.
abstract: We report the results of a fluorometric assay for alpha-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 alpha-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.
authors.affiliation: Research and Clinical Laboratory, Osaka National Hospital, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Nakanishi
authors.forename: S
authors.initials: S
authors.lastname: Funahashi
authors.forename: T
authors.initials: T
authors.lastname: Funai
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
authors.forename: A
authors.initials: A
authors.lastname: Shimizu
mesh_terms: D002648:Child; D004796:Clinical Enzyme Tests; D000795:Fabry Disease / Q000175:diagnosis*; D005470:Fluorometry; D006028:Glycosphingolipids / Q000652:urine*; D006801:Humans; D007962:Leukocytes / Q000737:chemistry; D008297:Male; D016339:Spectrometry, Mass, Fast Atom Bombardment; D000519:alpha-Galactosidase / Q000097:blood*; D001616:beta-Galactosidase / Q000097:blood
chemical_list: D006028:Glycosphingolipids; D000519:alpha-Galactosidase; D001616:beta-Galactosidase