Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases

Clinica Chimica Acta

Volumn 372, Issue 1-2, 2006, Pages 98-102

  Civallero, Gabriel ^a,b   Michelin, Kristiane ^a,b   de Mari, Jurema ^a   Viapiana, Marli ^a   Burin, Maira ^a,b   Coelho, Janice C ^a,b   Giugliani, Roberto ^a,b  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

Author keywords

Acid hydrolases; Dried blood filter paper; Enzyme assays; Enzyme replacement therapy; Inborn errors of metabolism; Lysosomal storage diseases

Indexed keywords

ACID HYDROLASE; ALPHA GALACTOSIDASE; ALPHA N ACETYLGLUCOSAMINIDASE; BETA GALACTOSIDASE; BETA GLUCOSIDASE; BETA GLUCURONIDASE; BETA N ACETYLHEXOSAMINIDASE A; CHITOTRIOSIDASE; IDURONATE 2 SULFATASE; LEVO IDURONIDASE; N ACETYLGALACTOSAMINE 4 SULFATASE; SPHINGOMYELIN PHOSPHODIESTERASE;

ADULT; ARTICLE; BLOOD FILTER; BLOOD SAMPLING; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME REPLACEMENT; FEASIBILITY STUDY; FLUORESCENCE; FLUOROMETRY; HETEROZYGOTE; HUMAN; INBORN ERROR OF METABOLISM; LYSOSOME STORAGE DISEASE; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; RADIOACTIVITY; RADIOMETRY; STATISTICAL SIGNIFICANCE;

FLUOROMETRY; HUMANS; LYSOSOMAL STORAGE DISEASES; LYSOSOMES; PAPER; SENSITIVITY AND SPECIFICITY;

EID: 33747815417     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2006.03.029     Document Type: Article

References (19)

1. Scriver C.R., Beaudet A.L., Sly W.S., et al. Metabolic and Molecular Basis of Inherited Disease. eighth edn (2001), McGraw Hill, New York
2. Umapathysivam K., Hopwood J., and Meikle P. Determination of acid α-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem 47 (2001) 1378-1383
3. Chamoles N.A., Blanco M.B., Gaggioli D., and Casentini C. Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper. Clin Chem 47 (2001) 2098-2102
4. Chamoles N.A., Blanco M.B., and Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 308 (2001) 195-196
5. Chamoles N.A., Blanco M.B., Gaggioli D., and Casentini C. Gaucher and Niemann-Pick diseases. Enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin Chim Acta 317 (2002) 191-197
6. Kallwass H., Carr S., Chamoles N., and Keultzer J. Diagnosis of Pompe disease by enzyme assay in dried-blood filter paper spots. J Inherit Metab Dis 28 suppl 1 (2005) 193 (abstract)
7. Hein L., Meikle P., Dean C., et al. Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots. Clin Chim Acta 353 (2005) 67-74
8. Pagliardini S., and Spada M. First neonatal mass screening program for lysosomal storage disorders: 18 month experience. J Inherit Metab Dis 28 supplement 1 (2005) 148 (abstract)
9. Li Y., Scott C., Chamoles N., et al. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem 50 10 (2004) 1785-1796
10. Fuller M., Lovejoy M., Brooks D., Harkin M., Hopwood J., and Meikle P. Immunoquantification of α-galactosidase: evaluation for the diagnosis of Fabry disease. Clin Chem 50 (2004) 1979-1985
11. Wang D., Eadala B., Sadilek M., et al. Tandem mass spectrometry analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns. Clin Chem 51 5 (2005) 898-900
12. Niizawa G., Blanco M.B., Levin C., Aranda C., and Chamoles N.A. Retrospective diagnosis of glycogen storage disease type II by use of newborn-screening card. Clin Chim Acta 359 (2005) 205-206
13. Meikle P., Ranieri E., Simonsen H., et al. Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Pediatrics 114 (2004) 909-916
14. Peters S., Coyle P., and Glew R. Differentiation of β-glucocerebrosidase form β-glucosidase in human tissues using sodium taurocholate. Arch Biochem Biophys 175 (1976) 562-569
15. Bayleran J., Hechtman P., and Saray W. Synthesis of 4-methylumbelliferyl-beta-d-N-acetyglucosamine-6-sulfate and its use in classification of GM2-gangliosidosis genotypes. Clin Chim Acta 143 (1984) 73-89
16. Hopwood J.J., Muller V., Smithson A., and Baggett N. A fluorometric assay using 4-methylumbelliferyl alpha-l-iduronide for the estimation of alpha-l-iduronidase activity and the detection of Hurler and Scheie syndromes. Clin Chim Acta 92 (1979) 257-265
17. Voznyi Y.V., Keulemans J.L.M., Beyer E.M., and van Diggelen O.P. A fluorogenic assay for the diagnosis of Hunter disease (MPS II). J Inherit Metab Dis 24 (2001) 675-680
18. Marsh J., and Fensom A. 4-methylumbelliferyl-alfa-N-acetylglucosaminidase activity for diagnosis of Sanfilippo syndrome. Clin Genet 27 (1985) 258
19. Pentchev P.G., et al. A lysosomal storage disorder in mice characterized by dual deficiency of sphingomyelinase and glucocerebrosidase. Biochim Biophys Acta 619 (1980) 669-679