title: Determination of the lysosomal hydrolase activity in blood collected on filter paper, an alternative to screen high risk populations.
abstract: This study aimed to determine the enzymatic activity in dried blood samples collected on filter paper (DBS) for the diagnosis of the following diseases: Fabry, Pompe, Mucopolysaccharidosis type I (MPS I) and Mucopolysaccharosis type VI (MPS VI). DBS was used for high risk patientscreening, according to clinical suspicion. Plasma, leukocytes and cultured fibroblasts were used to confirm the diagnosis when necessary. Among the 529 DBS samples sent to the laboratory, 164 had abnormal results. Confirmatory materials of 73 individuals were rerouted. The frequency of diagnosis for lysosomal storage disorders was 5.9%. DBS is an alternative screening technique used in high risk populations, which should lead to earlier diagnosis for lysosomal storage disorders (LSDs), help patients get treatment sooner and improve the outcome of the disease.
authors.affiliation: Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: Cristina D
authors.initials: CD
authors.lastname: Castilhos
authors.affiliation: Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: Jamila
authors.initials: J
authors.lastname: Mezzalira
authors.affiliation: Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: Mariana P S
authors.initials: MP
authors.lastname: Goldim
authors.affiliation: Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: Vanessa V
authors.initials: VV
authors.lastname: Daitx
authors.affiliation: Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: Cristina da S
authors.initials: Cda S
authors.lastname: Garcia
authors.affiliation: Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: Carla V
authors.initials: CV
authors.lastname: Andrade
authors.affiliation: Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: Ana C
authors.initials: AC
authors.lastname: Breier
authors.affiliation: Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: Jaqueline
authors.initials: J
authors.lastname: Cé
authors.affiliation: Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: Alexandre S
authors.initials: AS
authors.lastname: Mello
authors.affiliation: Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. Electronic address: janice.coelho@ufrgs.br.
authors.forename: Janice C
authors.initials: JC
authors.lastname: Coelho
mesh_terms: D001800:Blood Specimen Collection; D005260:Female; D006801:Humans; D006867:Hydrolases / Q000378:metabolism*; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000201:enzymology / Q000378:metabolism; D008247:Lysosomes / Q000201:enzymology* / Q000378:metabolism*; D008297:Male; D008403:Mass Screening / Q000379:methods
chemical_list: D006867:Hydrolases
keywords: ASB; Alpha-galactosidase A; Alpha-glucosidase; Alpha-iduronidase; Arylsulphatase B; DBS; Dried blood spots collected on filter paper; Dried blood spots on filter paper; GAA; GAL; IDUA; LC/MS/MS; LSDs; Liquid chromatography combined with tandem mass spectrometry; Lysosomal storage diseases; Lysosomal storage disorders; MPS I; MPS VI; Mucopolysaccharidosis type I; Mucopolysaccharosis type VI; ROC; Receiver Operating Characteristics; Screening high risk populations