Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I

Molecular Genetics and Metabolism

Volumn 88, Issue 1, 2006, Pages 16-21

  Magera, Mark J ^a   Gunawardena, Nishantha D ^a   Hahn, Si Houn ^a   Tortorelli, Silvia ^a   Mitchell, Grant A ^b   Goodman, Stephen I ^c   Rinaldo, Piero ^a   Matern, Dietrich ^a  

^a Mayo Clinic   (United States)

^b UNIVERSITY OF MONTREAL   (Canada)

^c UNIVERSITY OF COLORADO   (United States)

Author keywords

Dried blood spot; Fumarylacetoacetate hydrolase deficiency; Newborn screening; Succinylacetone; Tandem mass spectrometry; Tyrosinemia type I

Indexed keywords

DEUTERIUM; NITISINONE; SUCCINYLACETONE; TYROSINE;

ACCURACY; ANALYTIC METHOD; AQUEOUS SOLUTION; ARTICLE; BLOOD ANALYSIS; BLOOD SAMPLING; CALIBRATOR; CHEMICAL REACTION; CLINICAL ARTICLE; CONTROLLED STUDY; EXTRACTION; HUMAN; ISOTOPE LABELING; LIQUID CHROMATOGRAPHY; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REACTION ANALYSIS; STANDARD; TANDEM MASS SPECTROMETRY; TYROSINEMIA;

ALGORITHMS; CHROMATOGRAPHY, LIQUID; HEPTANOATES; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TYROSINEMIAS; UNITED STATES;

EID: 33646488382     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.12.005     Document Type: Article

References (11)

1. Mitchell G.A., et al. Hypertyrosinemia. In: Scriver C.R., et al. (Ed). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill, New York 1777-1805
2. Holme E., and Lindstedt S. Nontransplant treatment of tyrosinemia. Clin. Liver Dis. 4 4 (2000) 805-814
3. Alvarez F., et al. Nitisinone (NTBC) treatment of hepatorenal tyrosinemia in Quebec. J. Inherit. Metab. Dis. 28 Suppl 1 (2005) 49
4. Schulze A., et al. Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I. Clin. Chem. 47 8 (2001) 1424-1429
5. Allard P., et al. Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots. Clin. Biochem. 37 11 (2004) 1010-1015
6. Rashed M.S., et al. Tandem mass spectrometric assay of succinylacetone in urine for the diagnosis of hepatorenal tyrosinemia. Anal. Biochem. 339 2 (2005) 310-317
7. Tuchman M., et al. Determination of urinary succinylacetone by capillary gas chromatography. J. Chromatogr. Sci. 22 5 (1984) 211-215
8. A. Grenier, C. Laberge, Neonatal screening for tyrosinemia type I and early sampling (abstract). Third Meeting of the International Society for Neonatal Screening (abstract book), 1996: 70.
9. B.L. Therrell, National Newborn Screening and Genetics Resource Center. 2005 (Accessed 10/17/2005).
10. Chace D.H., Kalas T.A., and Naylor E.W. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin. Chem. 49 11 (2003) 1797-1817
11. Lacey J.M., et al. Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin. Chem. 50 3 (2004) 621-625