Tandem mass spectrometric assay of succinylacetone in urine for the diagnosis of hepatorenal tyrosinemia

Analytical Biochemistry

Volumn 339, Issue 2, 2005, Pages 310-317

  Rashed, Mohamed S ^a   Al Ahaidib, Lujane Y ^a,b   Al Dirbashi, Osama Y ^a   Al Amoudi, Mohammad ^a   Al Sayed, Moeen M A ^a   Rahbeeni, Zuhair ^a   Al Hassnan, Zuhair ^a   Al Dbaas, Abeer ^b   Al Owain, Mohamed ^a   Ni Luanaigh, Michelle ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

LC MS MS; Succinylacetone; Tyrosinemia

Indexed keywords

AMINES; AMINO ACIDS; LIQUID CHROMATOGRAPHY; MASS SPECTROMETRY; PATIENT TREATMENT; POSITIVE IONS; PROPIONIC ACID; SOLVENT EXTRACTION;

CALIBRATION CURVES; HYDROXYLAMINE HYDROCHLORIDE; LC-MS/MS; LIQUID CHROMATOGRAPHY TANDEM MASS SPECTROMETRY (LC MS/MS); SELECTED REACTION MONITORING; SUCCINYLACETONE; TANDEM MASS SPECTROMETRIC; TYROSINEMIA;

DIAGNOSIS;

5(30) METHYL 3(5) ISOXAZOLE PROPIONIC ACID; CHLORIDE; ESTER DERIVATIVE; HYDROXYLAMINE; ISOXAZOLE DERIVATIVE; NITROGEN 15; OXIME DERIVATIVE; PROPIONIC ACID DERIVATIVE; SOLVENT; SUCCINYLACETONE; UNCLASSIFIED DRUG;

ARTICLE; CALIBRATION; CLINICAL ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DERIVATIZATION; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; HUMAN; INFANT; ISOTOPE DILUTION ASSAY; ISOTOPE LABELING; LIQUID CHROMATOGRAPHY; NEWBORN; POSITIVE ION ELECTROSPRAY; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REACTION ANALYSIS; SCHOOL CHILD; SOLVENT EXTRACTION; STANDARD; TANDEM MASS SPECTROMETRY; TYROSINEMIA; URINALYSIS; URINE; URINE LEVEL; VARIANCE;

EID: 20144375212     PISSN: 00032697     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ab.2005.01.014     Document Type: Article

References (26)

1. M. Lelong, D. Alagille, C.I. Gentil, J. Collin, V. Le Tan, and J.C. Gabilan Cirrhose congenitale et familiale avec diabete phospho-gluco-amine, rachitismine vitamin D-resistant et tyrosinurie massive Rev. Franc. Etud. Clin. Biol. 8 1963 37 50
2. R. Zetterstrom Tyrosinosis Ann. N. Y. Acad. Sci. 111 1963 220 226
3. T.L. Perry, D.F. Hardwick, G.H. Dixon, C.L. Dolman, and S. Hansen Hypermethioninemia: A metabolic disorder associated with cirrhosis, islet cell hyperplasia, and renal tubular degeneration Pediatrics 36 1965 236 250
4. J. Gentz Tyrosinemia J. Pediatr. 66 1965 670 696
5. E. Kvittingen Tyrosinemia type I: An update J. Inher. Metab. Dis. 14 1991 554 562
6. B. Lindblad, S. Lindstedt, and G. Steen On the enzymic defects in hereditary tyrosinemia Proc. Natl. Acad. Sci. USA 74 1977 4641 4645
7. R. Berger, G.P. Smit, S.A. Stocker-Devries, M. Duran, D. Ketting, and S.K. Wadman Deficiency of fumarylacetoacetase in patients with hereditary tyrosinemia Clin. Chim. Acta 114 1981 37 44
8. R. Berger, H. Van Fassen, and G.P.A. Smith Biochemical studies on the enzymatic deficiencies of hereditary tyrosinemia Clin. Chim. Acta 134 1983 129 141
9. G.A. Mitchell, M. Lambert, and R. Tanguay Hypertyrosinemia C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The metabolic and molecular bases of inherited disease seventh ed. 1995 McGraw-Hill New York 1087 1095
10. G. Mitchell, J. Larochelle, M. Lambert, J. Michaud, A. Grenier, H. Ogier, and M. Gauthier Neurologic crises in hereditary tyrosinemia N. Engl. J. Med. 322 1990 432 437
11. E. Holme, and S. Lindstedt Diagnosis and management of tyrosinemia type I Curr. Opin. Pediatr. 7 1995 726 732
12. 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
13. 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
14. A. Grenier, A. Lescault, C. Laberge, R. Gagne, 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
15. C. Jakobs, L. Dorland, B. Wikkerink, R.M. Kok, A.P. Dejong, and S.K. Wadman Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: An accurate approach to the pre- and post neonatal diagnosis of hereditary tyrosinemia type I Clin. Chim. Acta 171 1988 223 231
16. H. Schierbeek, and R. Berger Determination of succinylacetone and SAA 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
17. M.S. Rashed, M.D. Al-Sayed, Z. Rahbeeni, Z. Al-Hassnan, L. Al-Ahaidib, M. Ni-Luanaigh, and M. Al-Amoudi Quantitative analysis of succinylacetone in urine by liquid chromatography electrospray tandem mass spectrometry J. Inherit. Metab. Dis. 26 Suppl. 2 2003 196
18. M.S. Rashed Clinical applications of tandem mass spectrometry: Ten years of diagnosis and screening for inherited metabolic diseases J. Chromatogr. B 758 2001 27 48
19. M.S. Rashed, Z. Rahbeeni, and P.T. Ozand Application of electrospray tandem mass spectrometry to neonatal screening Semin. Perinatol. 23 1999 183 193
20. K. Tanaka, A. West-Dull, D.G. Hine, T.B. Lynn, and T. Lowe Gas-chromatographic method of analysis for urinary organic acid: II. Description of the procedure and its application to the diagnosis of patients with organic acidurias Clin. Chem. 26 1980 1847 1853
21. S. Manabe, S. Sassa, and A. Kappas Hereditary tyrosinemia: Formation of succinylacetone-amino acid adducts J. Exp. Med. 162 1985 1060 1074
22. E. Holme, and S. Lindstedt Tyrosinemia type 1 and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione) J. Inher. Metab. Dis. 5 1998 5 17
23. M. Dhalimy, K. Overturf, 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
24. M.C. Luijerink, S.M.M. Jacobs, E.A.C.M. van Beurden, L.P. Kornneef, L.W.J. Klomp, and R. Berger Extensive changes in liver gene expression induced by hereditary tyrosinemia type I are not normalized by treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) J. Hepatol. 39 2003 901 909
25. D. Matern, M.J. Magera, N. Gunawardena, G. Mitchell, S.H. Hahn, and P. Rinaldo Succinylacetone analysis in blood spots by tandem mass spectrometry J. Inherit. Metab. Dis. 27 suppl. 1 2004 15
26. P. Allard, A. Grenier, M.S. Korson, and T.H. Zytkovicz Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: Analysis of succinylacetone extracted from dried blood spots Clin. Biochem. 37 2004 1010 1015