Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: Analysis of succinylacetone extracted from dried blood spots

Clinical Biochemistry

Volumn 37, Issue 11, 2004, Pages 1010-1015

  Allard, Pierre ^a,d   Grenier, André ^b   Korson, Mark S ^a   Zytkovicz, Thomas H ^c  

^a TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITÉ LAVAL   (Canada)

^c UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF MONTREAL   (Canada)

Author keywords

Dried blood spots; Filter paper; Newborn screening; Succinylacetone; Tandem mass spectrometry; Tyrosinemia

Indexed keywords

ACETONITRILE; FORMIC ACID; HYDRAZINE; SUCCINYLACETONE; WATER;

ARTICLE; BLOOD ANALYSIS; CALIBRATION; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; EXTRACTION; HEPATORENAL SYNDROME; HUMAN; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; SAMPLING; TANDEM MASS SPECTROMETRY; TYROSINEMIA;

HEPTANOATES; HUMANS; INFANT, NEWBORN; KIDNEY; LIVER; MASS SPECTROMETRY; NEONATAL SCREENING; TYROSINEMIAS;

EID: 6344262303     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2004.07.006     Document Type: Article

References (21)

1. G.A. Mitchell, M. Grompe, M. Lambert, and R.M. Tanguay Hypertyrosinemia C.R. Scriver A.L. Beaudet W.S. Sly D.V. Valle The metabolic and molecular bases of inherited disease eight ed. 2001 McGraw-Hill New York 1785 1798
2. M. Al-Dhalimy, K. Oveturf, M. Finegold, and M. Grompe Long-term therapy with NTBC and tyrosine-restricted diet in a murine model of hereditary tyrosinemia type I Mol. Genet. Metab. 75 2002 38 45
3. E. Holme, and S. Lindstedt Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione) J. Inherit. Metab. Dis. 21 1998 507 517
4. P.M. Jones, and M.J. Bennett The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry Clin. Chim. Acta 324 2002 121 128
5. C. Laberge, A. Grenier, J.P. Valet, and J. Morissette Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I Am. J. Hum. Genet. 47 1990 325 328
6. K.J. Goulden, M.A. Moss, D.E. Cole, G.A. Tithecott, and J.F. Crocker Pitfalls in the initial diagnosis of tyrosinemia: three case reports and a review of the literature Clin. Biochem. 20 1987 207 212
7. E.A. Kvittingen, H. Rootwelt, T. van Dam, H. van Faassen, and R. Berger Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein Pediatr. Res. 31 1992 43 46
8. V.R. Berger, H. van Faassen, and G.P. Smith Biochemical studies on the enzymatic deficiencies in hereditary tyrosinemia Clin. Chim. Acta 134 1983 129 141
9. A. Schulze, D. Frommhold, G.F. Hoffmann, and E. Mayatepek Spectrophotometric microassay for δ-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I Clin. Chem. 47 2001 1424 1429
10. A. Grenier, A. Lescault, C. Laberge, R. Gagné, and O. Mamer Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia Clin. Chim. Acta 123 1982 93 99
11. C. Jakobs, L. Dorland, B. Wikkerink, R.M. Kok, A.P. de Jong, and S.K. Wadman Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I Clin. Chim. Acta 171 1988 223 231
12. H. Schierbeek, and R. Berger Determination of succinylacetone and succinylacetoacetate in physiological samples as the common product 5(3)-methyl-3(5)-isoxazole propionic acid using an isotope dilution method and mass spectrometry Clin. Chim. Acta 184 1989 243 250
13. M.S. Rashed, M.A.D. Al-Sayed, and Z. Rahbeeni Quantitative analysis of succinylacetone in urine by liquid chromatography electrospray tandem mass spectrometry J. Inherit. Metab. Dis. 26 suppl. 2 2003 196
14. M. Tuchman, C.B. Whitley, M.L. Ramnaraine, L.D. Bowers, K.D. Fregien, and W. Krivit Determination of urinary succinylacetone by capillary gas chromatography J. Chromatogr. Sci. 22 1984 211 215
15. T.H. Zytkovicz, E.F. Fitzgerald, and D. Marsden Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England newborn screening program Clin. Chem. 47 2001 1945 1955
16. A. Grenier, and A. Lescault Succinylacetone A. Bergmeyer Methods of enzymatic analysis vol. 8 1985 VCH Weinheim 73 79
17. S. Manabe, S. Sassa, and A. Kappas Hereditary tyrosinemia: formation of succinylactone-amino acid adducts J. Exp. Med. 162 1985 1060 1074
18. M. Vogel, A. Büldt, and U. Karst Hydrazine reagents as derivatizing agents in environmental analysis - A critical review Fresenius' J. Anal. Chem. 366 2000 781 791
19. T. Patel, J. Bruce, and A. Merry Use of hydrazine to release in intact and unreduced form both N- and O-linked oligosaccharides from glycoproteins Biochemistry 32 1993 679 693
20. H.L. Byers, E. Tarelli, K.A. Homer, and D. Beighton Sequential deglycosylation and utilization of the N-linked, complex-type glycans of human alpha1-acid glycoprotein mediates growth of Streptococcus oralis Glycobiology 9 1999 469 479
21. M. Jemal, A. Schuster, and D.B. Whigan Liquid chromatography/tandem mass spectrometry methods for quantitation of mevalonic acid in human plasma and urine: method validation, demonstration of using a surrogate analyte, and demonstration of unacceptable matrix effect in spite of use of a stable isotope analog internal standard Rapid Commun. Mass Spectrom. 17 2003 1723 1734