title: Comparing the alpha-galactosidase A biochemical properties from healthy individuals and Fabry disease patients.
abstract: BACKGROUND
  Due to the importance and the difficulty still present in determining the biochemical diagnosis of Fabry disease (FD), the aim of this study was to establish and compare the biochemical and kinetic properties of alpha-galactosidase A (GLA) in dried blood spots (DBS), plasma and leukocyte samples of FD patients and healthy subjects to evaluate the possible use of these parameters as an auxiliary tool in the diagnosis of this disease.
  
  
  METHODS
  GLA activity in DBS, plasma and leukocyte samples from Fabry disease patients and healthy subjects was compared and characterized in terms of optimal pH, Km and Vmax and heat stability.
  
  
  RESULTS
  A difference was observed between the Km and Vmax of FD patients and healthy controls using DBS, plasma and leukocyte samples. In leukocytes, pre-incubation at 50°C for 60 min was effective to differentiate FD patients from healthy controls.
  
  
  CONCLUSIONS
  These results can be used as an auxiliary method to the FD diagnosis, especially in cases of patients whose GLA activity is within normal range.
authors: Graduate Program in Biology-Biochemistry, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors: Vanessa Vitcoski
authors: VV
authors: Daitx
authors: Graduate Program in Biology-Biochemistry, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors: Jamila
authors: J
authors: Mezzalira
authors: Department of Biochemistry, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors: Vitória da Costa
authors: Vda C
authors: Moraes
authors: Graduate Program in Biology-Biochemistry, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors: Ana Carolina
authors: AC
authors: Breier
authors: Graduate Program in Biology-Biochemistry, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors: Jaqueline
authors: J
authors: Cé
authors: Department of Biochemistry, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Graduate Program in Biology-Biochemistry, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. Electronic address: janice.coelho@ufrgs.br.
authors: Janice Carneiro
authors: JC
authors: Coelho
mesh_terms: D016022:Case-Control Studies; D059788:Dried Blood Spot Testing; D004795:Enzyme Stability; D000795:Fabry Disease / Q000097:blood* / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006358:Hot Temperature; D006801:Humans; D007700:Kinetics; D007963:Leukocytes, Mononuclear / Q000201:enzymology* / Q000473:pathology; D008297:Male; D000519:alpha-Galactosidase / Q000378:metabolism*
chemical_list: D000519:alpha-Galactosidase
keywords: Alpha-galactosidase A; Fabry disease; Kinetics; Lysosomal disorders