Practical and reliable enzyme test for the detection of Mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples

Clinica Chimica Acta

Volumn 412, Issue 19-20, 2011, Pages 1805-1808

  Camelier, Marli V ^a,b   Burin, Maira G ^a   De Mari, Jurema ^a   Vieira, Taiane A ^a,b   Marasca, Giórgia ^a   Giugliani, Roberto ^a,b,c  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

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

^c INAGEMP   (Brazil)

Author keywords

Dried blood spots; Glycosaminoglycans; Lysosomal storage diseases; Morquio syndrome; Mucopolysaccharidosis IVA; Screening

Indexed keywords

N ACETYLGALACTOSAMINE 6 SULFATASE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; CALIBRATION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; ENZYME ACTIVITY; ENZYME ASSAY; FLUORESCENCE ANALYSIS; HUMAN; HUMAN CELL; HYDROLYSIS; INTERMETHOD COMPARISON; LEUKOCYTE; MORQUIO SYNDROME TYPE A; MUCOPOLYSACCHARIDOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROCESS OPTIMIZATION; QUANTITATIVE ANALYSIS; RELIABILITY; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; HUMANS; MIDDLE AGED; MUCOPOLYSACCHARIDOSIS IV; REPRODUCIBILITY OF RESULTS; YOUNG ADULT;

IVA;

EID: 79960644188     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2011.06.001     Document Type: Article

References (19)

1. Lipiello L., Mankin H.J. Thin-layer chromatographic separation of the isomeric chondroitin sulfates, dermatan sulfate and keratan sulfate. Anal Biochem 1977, 39:54-58.
2. Kircher S.G., Bajbouj M., Miebach E., Beck M. Therapy. Mucopolysaccharidoses - a guide for physicians and parents 2007, 72-80. International Medical Publishers, London. Kircher (Ed.).
3. Pennock C.A. A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses. J. Clin. Path 1976, 29:111-128.
4. Barth M.L., Giugliani R., Gondenfum S.L., et al. Application of a flowchart for the detection of lysosomal storage diseases in 105 high-risk Brazilian patients. Am J Med Genet 1990, 37:534-538.
5. Schwartz I., Matte U., Leistner S., Giugliani R. Mucopolysaccharidoses. Doenças Genéticas em Pediatria 2001, 180-184. Guanabara Koogan, Rio de Janeiro. K. Gerson (Ed.).
6. Sanchez M.B., Fuentes F.J.R. Mucopolysaccharidoses. Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias 2006, 621-629. Ergon. C/Arboleda 1, 28220, Majadahonda (Madrid. P. Sanrurjo, A. Baldellou (Eds.).
7. Dangel J.H. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders - clinical and achocardiographic findings in 64 patients. Eur J Pediatr 1998, 157:534-538.
8. Colombo M.C., Cornejo V.E., Raimann E.B. Errores innatos en el metabolismo del niño. Ed. Universitária 2003, 8:225-236.
9. Neufeld E.F., Muenzer J. The mucopolysaccharidoses. New York, USA: McGraw - Hill 2001, II:3421-3452. 8th edition. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
10. Van Diggelen O.P., Zhao H., Kleijer W.J., et al. A fluorimetric enzyme assay for the diagnosis of Morquio disease type A. (MPS IV A). Clin Chim Acta 1990, 187:131-140.
11. Burin M., Dutra C., Brum J., Mauricio T., Amorim M., Giugliani R. Effect of collection, transport, processing and storage of blood specimens on the activity of lysosomal enzymes in plasma and leukocytes. Braz J Med Biol Res 2000, 33:1003-1013.
12. Chamoles N.A., Blanco M.B., Gaggioli D., Casentini C. Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper. Clin Chem 2001, 47:2098-2102.
13. Civallero G., Michelin K., Mari J., Viapiana M., Burin M., Coelho J.C., et al. Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases. Clin Chim Acta 2006, 372:98-102.
14. National Committe for Clinical Laboratory Standard Blood collection on filter paper for newborn screenings program. Approved standard-fourth edition. NCCLS document LA4-A4. Vilanova, Pa.: NCCLS 2003.
15. Skoog W.A., Beck W.S. Studies on the fibrinogen, dextran and phytohemaglutinin methods of isolating leukocytes. Blood 1956, 11:436-454.
16. Lowry O.H., Rosebrough N.J., Farr A.L., Randall R.J. Protein measurement with the Folin phenol reagent. J Biol Chem 1951, 193:265-275.
17. Tylki - Szymanska A., Czartoryska B., Bunge S., et al. Clinical, biochemical and molecular findings in a two-generation Morquio A family. Clin Genet 1998, 53:369-374.
18. Hopwood J.J., Muller V., Lawrence E., Brooks D. N-acetylgalactosamine-6-sulfatase protein detection in MPS IV A patient and unaffected control samples. Clin Chim Acta 2007, 377:88-91.
19. Khaliq T., Sadilek M., Scott R.C., Turecek F., Gelb M.H. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidoses IVA. Clin Chem 2011, Jan, 57(1):128-131.