Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone

Clinical Chemistry

Volumn 52, Issue 3, 2006, Pages 482-487

  Sander, Johannes ^a   Janzen, Nils ^a   Peter, Michael ^a   Sander, Stefanie ^a   Steuerwald, Ulrike ^a   Holtkamp, Ute ^a   Schwahn, Bernd ^b   Mayatepek, Ertan ^b   Trefz, Friedrich K ^c   Das, Anibh M ^d  

^a Screening Laboratory   (Germany)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^c Klinikum am Steinenberg   (Germany)

^d HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

5,7 DIOXOOCTANOIC ACID; ACETONITRILE DERIVATIVE; ACYLCARNITINE; AMINO ACID; FORMIC ACID; HYDRAZINE; METHANOL; OCTANOIC ACID; SOLVENT; SUCCINYLACETONE; TYROSINE; UNCLASSIFIED DRUG;

ANALYTIC METHOD; ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; EARLY DIAGNOSIS; EXTRACTION; HEPATORENAL TYROSINEMIA; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; NEWBORN; NEWBORN SCREENING; QUANTITATIVE DIAGNOSIS; RETROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; STANDARD; TANDEM MASS SPECTROMETRY; TYROSINEMIA;

BLOOD SPECIMEN COLLECTION; FEMALE; HEPTANOATES; HUMANS; INFANT, NEWBORN; MALE; MASS SPECTROMETRY; NEONATAL SCREENING; PROSPECTIVE STUDIES; RETROSPECTIVE STUDIES; TYROSINEMIAS;

EID: 33644554175     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.059790     Document Type: Article

References (24)

1. Mitchell GA, Grompë M, Lambert M, Tanguay RM. Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw-Hill, 2001:1777-805.
2. Goulden KJ, Moss MA, Cole DE, Tithecott GA, Crocker JF. Pitfalls in the initial diagnosis of tyrosinemia: three case reports and a review of the literature, Clin Biochem 1987;20:207-12.
3. Allard P, Grenier A, Korson MS, Zytkovicz TH. Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots. Clin Biochem 2004;37:1010-5.
4. Manabe S, Sassa S, Kappas A. Hereditary tyrosinemia: formation of succinylacetone-amino acid adducts. J Exp Med 1985;162:1060-74.
5. Vogel M, Büldt A, Karst U. Hydrazine reagents as derivatizing agents in environmental analysis: a critical review. Fresenius J Anal Chem 2000;366:781-91.
6. Chace DH, Kalas TA, Naylor EW. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem 2003;49:1797-817.
7. Rashed MS, Rahbeni Z, Ozand PT. Application of electrospray tandem mass spectrometry to neonatal screening. Semin Perinatol 1999;23:183-93.
8. Sander J, Sander S, Steuerwald U, Janzen N, Peter M, Wanders RJA, et al. Neonatal screening for defects of the mitochondrial trifunctional protein. Mol Genet Metab 2005;85:108-14.
9. Laberge C. Hereditary tyrosinemia in a French Canadian isolate. Am J Hum Genet 1969;21:36-45.
10. Verma IC. Burden of genetic disorders in India. Ind J Pediatr 2000;67:893-8.
11. Nasrallah F, Souissi M, Feki H, Boukadida H, Sanhaji H, El Asmi M, et al. tyrosinemia type I: prevalence and clinical and biochemical profile in Tunesia [Abstract]. J Inherit Metab Dis 2005;28(Suppl 1):58.
12. Grompe M. The pathophysiology and treatment of hereditary tyrosinemia type I. Semin Liver Dis 2001;21:563-71.
13. Kvittingen EA. Hereditary tyrosinemia type I: an overview. Scand J Clin Lab Invest Suppl 1986;184:27-34.
14. Weinberg AG, Mize CE, Worthen HG. The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. J Pediatr 1976;88:434-8.
15. Holme E, Lindstedt S. Tyrosinemia type I and NTBC (2-(2-nitro-4- trifluoro-methylbenzoyl)-1,3-cyclohexanedione): J Inherit Metab 1998;21:507-17.
16. van Spronsen FJ, Berger R, Smit GP, de Klerk JB, Duran M, Bijleveld CM, et al. Tyrosinemia type I: orthoptic liver transplantation as the only definitive answer to a metabolic as well as an oncological problem. J Inherit Dis 1989;12:339-42.
17. Holme E, Lindstedt S. Nontransplant treatment of tyrosinemia. Clin Liver Dis 2000;4:805-14.
18. US Department of Health and Human Services, Maternal and Child Health Bureau. Newborn screening: toward a uniform screening panel and system report for public comment. Fed Regist 2005;70:308-29.
19. Grenier A, Lescault A, Laberge C, Gagné R, Marner O. Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia. Clin Chim Acta 1982;123:93-9.
20. Jakobs C, Porland L, Wikkerink B, Kok RM, de Jong APJM, Wadman SK. 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 1988;223:223-32.
21. Matern D, Magera MJ, Gunawardena N, Mitchell G, Hahn SH, Rinaldo P. Succinylacetone analysis in blood spots by tandem mass spectrometry [Abstract]. J Inherit Metab Dis 2004;27(Suppl 1):15.
22. Schulze A, Frommhold D, Hoffmann GF, Mayatepek E. Spectrophotometric microassay for δ-aminolevulinate dehydrogenase in dried-blood spots as confirmation for hereditary tyrosinemia type I. Clin Chem 2001;47:1424-9.
23. Laberge C, Grenier A, Valet JP, Morisette J. Fumarylacetoacetase measurement as a mass screening procedure for hereditary tyrosinemia type I. Am J Hum Genet 1990;47:325-8.
24. Wilson JMG, Jurigner G. Principles and practice of screening for disease. Public Health Pap 1968;34:26-35. 488-493