MPS screening methods, the berry spot and acid turbidity tests, cause a high incidence of false-negative results in Sanfilippo and Morquio syndromes

Journal of Clinical Laboratory Analysis

Volumn 16, Issue 5, 2002, Pages 253-258

  Chih Kuang, Chang ^a   Shuan Pei, Lin ^a   Shyue Jye, Lee ^a   Tuen Jen, Wang ^a  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

Author keywords

Acid turbidity test; Berry spot test; Dimethylmethylene blue method; Glycosaminoglycan; Mucopolysaccharidoses; Two dimensional electrophoresis

Indexed keywords

ACID;

ADOLESCENT; ANALYTIC METHOD; ARTICLE; ASIA; CHILD; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; ENZYMATIC ASSAY; HUMAN; HUNTER SYNDROME; INBORN ERROR OF METABOLISM; INTERMETHOD COMPARISON; LABORATORY DIAGNOSIS; MAJOR CLINICAL STUDY; MORQUIO SYNDROME; MUCOPOLYSACCHARIDOSIS; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; SANFILIPPO SYNDROME; SCREENING TEST; SENSITIVITY AND SPECIFICITY; TURBIDIMETRY; TWO DIMENSIONAL ELECTROPHORESIS; URINALYSIS;

CHILD; CHILD, PRESCHOOL; ELECTROPHORESIS; FALSE NEGATIVE REACTIONS; HUMANS; INCIDENCE; MUCOPOLYSACCHARIDOSES; MUCOPOLYSACCHARIDOSIS III; MUCOPOLYSACCHARIDOSIS IV;

EID: 0036391513     PISSN: 08878013     EISSN: None     Source Type: Journal    
DOI: 10.1002/jcla.10051     Document Type: Article

References (26)

1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudst Al, Sly WS, Valle D. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, Inc., Health Profession Division; 1995. p 2465-2494.
2. Applegarth DA, Dimmick JE, Hall JG. New York. Organelle diseases: clinical features, diagnosis, pathogenesis and management. London: Chapman 1997. p 45-97.
3. Besley GTN, Wraith JE. Lysosomal disorders. Curr Paediatri 1997;7:128-134.
4. Wraith JE. Mucopolysaccharidoses. Curr Paediatri 1996;6:74-79.
5. Berry HK, Spinanger J. A paper spot test useful in study of Hurler's syndrome. J Lab Clin Med 1960;55:136-139.
6. Berry HK. Screening for mucopolysaccharide disorders with the Berry spot test. Clin Biochem 1987;20:365-371.
7. Huang KC, Sukegawa K, Orii T. Screening test for urinary glycosaminoglycans and differentiation of various mucopolysaccharidoses. Clin Chim Acta 1985;151:147-156.
8. Rezvani I, Collipp PJ, DiGeoge AM. Evaluation of screening tests for urinary mucopolysaccharides. Pediatrics 1973;52:64-68.
9. de Jong JG, Wevers RA, Laarakkers C, Poorthuis BJ. Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses. Clin Chem 1989;35:1472-1477.
10. Hopwood JJ, Harrison JR. High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses. Anal Biochem 1982;119:120-127.
11. Dembure PP, Roesel RA. Screening for mucopolysaccharidoses by analysis of urinary glycosaminoglycans. In: Hommes FA. Techniques in diagnostic human biochemical genetics - a laboratory manual. New York: Wiley-Liss. Inc.; 1991. p 77-86.
12. Berman ER, Vered J, Bach G. A reliable spot test for mucopolysaccharidoses. Clin Chem 1971;17:886-890.
13. de Jong JG, Hasselman JJ, van Landeghem AA, Vader HL, Wevers RA. The spot test is not a reliable screening procedure for mucopolysaccharidoses. Clin Chem 1991;37:572-575.
14. Brimble A, Pennock C, Stone J. Results of a quality assurance exercise for urinary glycosaminoglycan excretion. Ann Clin Biochem 1990;27:133-138.
15. Chuang CK, Lin SP, Chung SF. Diagnostic screening for mucopolysaccharidoses by the dimethylmethylene blue method and two dimensional electrophoresis. Chinese Med J (Taipei) 2001;64:15-22.
16. Voznyi YV, Keulemans JL, van Diggelen OP. A fluorogenic assay for the diagnosis of Hunter disease (MPS II). J Inher Metab Dis 2001;24:675-680.
17. Karpova EA, Voznyi YV, Keulemans JL, et al. A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA). J Inher Metab Dis 1996;19:278-285.
18. Marsh J, Fensom AH. 4-Methylumbellifery α-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease. Clin Genet 1985;27:258-262.
19. van Diggelen, Zhao H, Kleijer WJ, et al. A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IVA). Clin Chim Acta 1990;187:131-140.
20. Carter CH, Wan AT, Carpenter DG. Commonly used tests in the detection of Hurler's syndrome. J Pediatr 1968;73:217-221.
21. Rattenbury JM, Worthy E, Allen JC. Screening tests for glycosaminoglycans in urine: experience from regional interlaboratory surveys. J Clin Pathol 1988;41:936-939.
22. Mossman J, Patrick AD. Prenatal diagnosis of mucopolysaccharidosis by two-dimensional electrophoresis of amniotic fluid glycosaminoglycans. Prenat Diagn 1982;2:169-176.
23. Kleijer WJ, Karpova EA, Geilen GC, et al. Prenatal diagnosis of Sanfilippo A syndrome: experience in 35 pregnancies at risk and the use of a new fluorogenic substrate for the heparin sulphamidase assay. Prenat Diagn 1996;16:829-835.
24. Kleijer WJ, Geilen GC, Garritsen V, et al. First-trimester diagnosis of Morquio disease type A. Prenat Diagn 2000;20:183-185.
25. Li P, Bellows AB, Thompson JN. Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome). J Med Genet 1999;36:21-27.
26. Vafiadaki E, Cooper A, Heptinstall LE, Hatton CE, Thornley M, Wraith JE. Mutation analysis in 57 unrelated patients with MPS II (Hunter disease). Arch Dis Child 1998;79:237-241.