External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study

Journal of Inherited Metabolic Disease

Volumn 28, Issue 6, 2005, Pages 979-990

  Ruijter, G J G ^a,b   Boer, M ^b   Weykamp, C W ^c   de Vries, R ^a   van den Berg, I ^d   Janssens Puister, J ^e   Niezen Koning, K ^e   Wevers, R A ^d   Poorthuis, B J H M ^a   Diggelen, O P ^b  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c Queen Beatrix Hospital   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GALACTOSIDASE; CRYOPROTECTIVE AGENT; LYSOSOME ENZYME; SPHINGOMYELIN PHOSPHODIESTERASE;

ARTICLE; BLOOD ANALYSIS; CASE REPORT; CELL FREE SYSTEM; CHEMICAL ANALYSIS; CLINICAL OBSERVATION; CLINICAL STUDY; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME ASSAY; FIBROBLAST CULTURE; FREEZE DRYING; GLYCOGEN STORAGE DISEASE TYPE 2; HEALTH CARE FACILITY; HEALTH SURVEY; HUMAN; HUMAN CELL; LABORATORY TEST; LEUKOCYTE; LYSOSOME STORAGE DISEASE; NETHERLANDS; PILOT STUDY; QUALITY CONTROL; QUANTITATIVE ANALYSIS; RELIABILITY; ROOM TEMPERATURE; VARIANCE;

ALPHA-GALACTOSIDASE; BETA-GALACTOSIDASE; BLOOD; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; LABORATORY TECHNIQUES AND PROCEDURES; LEUKOCYTES; LYSOSOMAL STORAGE DISEASES; LYSOSOMES; PILOT PROJECTS; QUALITY CONTROL; REPRODUCIBILITY OF RESULTS; SPECIMEN HANDLING; TEMPERATURE; TIME FACTORS;

EID: 31644447889     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-0201-z     Document Type: Article

References (32)

1. Baum H, Dodgson KS, Spencer B (1959) The assay of arylsulfatases A and B in human urine. Clin Chim Acta 4: 453-455.
2. Bonham JR, Downing M, Pollitt RJ, et al (1994) Quality assessment of urinary organic acid analysis. Ann Clin Biochem 31: 129-133.
3. Chamoles NA, Blanco MB, Gaggioli D, Casentini C (2001) Hurler-like phenotype: Enzymatic diagnosis in dried blood spots on filter paper. Clin Chem 47: 2098-2102.
4. Christomanou H, Sandhoff K (1977) A sensitive fluorescence assay for the simultaneous and separate determination of arylsulphatases A and B. Clin Chim Acta 79: 527-531.
5. Daniels LB, Glew RH, Diven WF, Lee RE, Radin NS (1981) An improved fluorometric leukocyte beta-glucosidase assay for Gaucher's disease. Clin Chim Acta 115: 369-375.
6. Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W (1973) Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med 81: 157-171.
7. Desnick RJ, Sharp HL, Grabowski GA, et al (1976) Mannosidosis: Clinical, morphologic, immunologic, and biochemical studies. Pediatr Res 10: 985-996.
8. Downing M, Allen JC, Bonham JR, et al (1999) Problems in the detection of fatty acid oxidation defects: Experience of a quality assurance programme for qualitative urinary organic acid analysis. J Inherit Metab Dis 22: 289-292.
9. Glaser JH, Sly WS (1973) Beta-glucuronidase deficiency mucopolysaccharidosis: Methods for enzymatic diagnosis. J Lab Clin Med 82: 969-977.
10. Ho MW, O'Brien JS (1970) Stimulation of acid beta-galactosidase activity by chloride ions. Clin Chim Acta 30: 531-534.
11. Inui K, Wenger DA (1984) Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta- D -glucopyranoside for the diagnosis of GM2 gangliosidoses in leukocytes. Clin Genet 26: 318-321.
12. Jones MZ, Rathke EJ, Cavanagh K, Hancock LW (1984) Beta-mannosidosis: prenatal biochemical and morphological characteristics. J Inherit Metab Dis 7: 80-85.
13. Keulemans JL, Reuser AJ, Kroos MA, et al (1996) Human alpha- N -acetylgalactosaminidase (alpha-NAGA) deficiency: New mutations and the paradox between genotype and phenotype. J Med Genet 33: 458-464.
14. Koster JF, Slee RG, Hulsmann WC (1972) The use of leucocytes as an aid in the diagnosis of a variant of glycogen storage disease type II (Pompe's disease). Eur J Clin Invest 2: 467-471.
15. Lee-Vaupel M, Conzelmann E (1987) A simple chromogenic assay for arylsulfatase A. Clin Chim Acta 164: 171-180.
16. Levade T, Salvayre R, Bes JC, Nezri M, Douste-Blazy L (1985) New tools for the study of Niemann-Pick disease: Analogues of natural substrate and Epstein-Barr virus-transformed lymphoid cell lines. Pediatr Res 19: 153-157.
17. Levey S, Jennings ER (1950) The use of control charts in the clinical laboratory. Am J Clin Pathol 20: 1059-1066.
18. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193: 265-275.
19. Lukacs Z, Keil A, Peters V, et al (2003) Towards quality assurance in the determination of lysosomal enzymes: A two-centre study. J Inherit Metab Dis 26: 571-581.
20. Marsh J, Fensom AH (1985) 4-Methylumbelliferyl alpha- N -acetylglucosaminidase activity for diagnosis of Sanfilippo B disease. Clin Genet 27: 258-262.
21. Negre A, Salvayre R, Durand P, Lenoir G, Douste-Blazy L (1984) Enzyme studies on Epstein-Barr virus-transformed lymphoid cell lines from Wolman's disease. Lipases, cholesterol esterase and 4-methylumbelliferyl acyl ester hydrolases. Biochim Biophys Acta 794: 89-95.
22. O'Brien JS, Okada S, Chen A, Fillerup DL (1970) Tay-Sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay. N Engl J Med 283: 15-20.
23. Robinson D, Thorpe R (1974) Fluorescent assay of alpha- L -fucosidase. Clin Chim Acta 55: 65-69.
24. Roos D, Loos JA (1970) Changes in the carbohydrate metabolism of mitogenically stimulated human peripheral lymphocytes. I. Stimulation by phytohaemagglutinin. Biochim Biophys Acta 222: 565-582.
25. Skoog WA, Beck WS (1956) Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes. Blood 11: 436-454.
26. Smith PK, Krohn RI, Hermanson GT et al (1985) Measurement of protein using bicinchonic acid. Anal Biochem 150: 76-85.
27. Spaapen LJM (1996) European Quality Assurance Program for the selective screening of inherited disorders of metabolism (ERNDIM) [abstract]. J Inherit Metab Dis 19 (Supplement 1): 104.
28. Stirling JL, Robinson D, Fensom AH, Benson PF, Baker JE, Button LR (1979) Prenatal diagnosis of two Hurler fetuses using an improved assay for methylumbelliferyl-alpha- L -iduronidase. Lancet 2: 37.
29. Van Diggelen OP, Zhao H, Kleijer WJ, et al (1990) A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A). Clin Chim Acta 187: 131-139.
30. Van Diggelen OP, Keulemans JL, Winchester B, et al (1999) A rapid fluorogenic palmitoyl-protein thioesterase assay: Pre- and postnatal diagnosis of INCL. Mol Genet Metab 66: 240-244.
31. Van Diggelen OP, Voznyi YV, Keulemans JL, et al (2005) A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate. J Inherit Metab Dis 28: 733-741.
32. Wiederschain G, Raghavan S, Kolodny E (1992) Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-beta- D -galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease. Clin Chim Acta 205: 87-96.