title: Comparison between alpha-galactosidase A activity in blood samples collected on filter paper, leukocytes and plasma.
abstract: OBJECTIVE
  To compare alpha-galactosidase A activity in dried blood spots on filter paper, plasma, and leukocytes of Fabry disease patients and healthy controls, and to develop a miniaturization approach of the techniques to measure activity using plasma and leukocytes.
  
  
  METHODS
  Blood was collected from healthy controls and Fabry disease patients. Two drops were spotted on filter paper. Plasma and leukocytes were separated from the remaining sample. Enzyme activity was assessed by fluorometry.
  
  
  RESULTS
  Significant positive correlation between standard and miniaturized techniques was observed. Alpha-galactosidase activity differed for male and female subjects when analyzed using filter paper and plasma. New reference and cutoff values were established based on the differences in alpha-galactosidase activity between genders. A good correlation was observed across biological materials assessed.
  
  
  CONCLUSIONS
  The establishment of specific values for men and women increases reliability of commonly used techniques to screen and diagnose Fabry disease.
authors.affiliation: Department of Biochemistry, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Vanessa Vitcoski
authors.initials: VV
authors.lastname: Daitx
authors.forename: Jamila
authors.initials: J
authors.lastname: Mezzalira
authors.forename: Mariana Pereira de Souza
authors.initials: MP
authors.lastname: Goldim
authors.forename: Janice Carneiro
authors.initials: JC
authors.lastname: Coelho
mesh_terms: D000293:Adolescent; D000328:Adult; D001800:Blood Specimen Collection; D016022:Case-Control Studies; D059788:Dried Blood Spot Testing; D000795:Fabry Disease / Q000097:blood* / Q000175:diagnosis / Q000201:enzymology; D005260:Female; D006801:Humans; D007962:Leukocytes / Q000201:enzymology*; D008297:Male; D010209:Paper; D010949:Plasma; D012016:Reference Values; D012680:Sensitivity and Specificity; D055815:Young Adult; D000519:alpha-Galactosidase / Q000097:blood*
chemical_list: C576330:GLA protein, human; D000519:alpha-Galactosidase