title: [Biochemical diagnosis of Anderson-Fabry disease in two brothers].
abstract: Activity of several lysosomal enzymes was studied in leukocytes, blood plasma and skin fibroblasts of two adult brothers with clinical diagnosis of Fabry disease. Activity of ceramide trihexoside-galactosidase was distinctly decreased in both patients. The residual enzymatic activity constituted 5-6% in the patients leukocytes, less than 10% in blood plasma and 25% in fibroblasts as compared with controls. Differences in composition of alpha-D-galactosidase multiple forms were detected in fibroblasts and blood cells of the patients with Fabry disease as compared with normal leukocytes by means of isoelectric focusing.
mesh_terms: D004796:Clinical Enzyme Tests; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D005696:Galactosidases / Q000172:deficiency*; D002517:Galactosylgalactosylglucosylceramidase / Q000097:blood / Q000172:deficiency*; D006801:Humans; D007525:Isoelectric Focusing; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D012867:Skin / Q000201:enzymology
chemical_list: D005696:Galactosidases; D002517:Galactosylgalactosylglucosylceramidase
vernacular_title: Biokhimicheskaia diagnostika bolezni Andersona-Fabri u dvukh brat'ev.