Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS

Biomedical Chromatography

Volumn 22, Issue 11, 2008, Pages 1181-1185

  Al Dirbashi, Osama Y ^a   Rashed, Mohamed S ^a   Jacob, Minnie ^a   Al Ahaideb, Lujane Y ^a   Al Amoudi, Mohamed ^a   Rahbeeni, Zuhair ^a   Al Sayed, Moeen M ^a   Al Hassnan, Zuhair ^a   Al Owain, Mohamed ^a   Al Zeidan, Hamad ^a  

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

Author keywords

Dried blood spots; Succinylacetone; Tyrosinemia type 1; UPLC MS MS

Indexed keywords

AMINO ACIDS; BLOOD; ELECTROSPRAY IONIZATION; LIQUID CHROMATOGRAPHY; MASS SPECTROMETRY;

ACQUITY; DIAGNOSTIC METHODS; DRIED BLOOD SPOT; ELECTROSPRAY IONIZATION TANDEM MASS SPECTROMETRY; LIQUID CHROMATOGRAPHY-TANDEM MASS SPECTROMETRY; LIQUID CHROMATOGRAPHY/TANDEM MASS SPECTROMETRY; SUCCINYLACETONE; TYROSINEMIA TYPE 1; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY; UPLC-MS/MS;

DIAGNOSIS;

CARBON 14; SUCCINYLACETONE;

ARTICLE; BLOOD EXAMINATION; CALIBRATION; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; ELECTROSPRAY MASS SPECTROMETRY; HEREDITARY TYROSINEMIA TYPE 1; HUMAN; INFANT; INTERMETHOD COMPARISON; LIQUID CHROMATOGRAPHY; SENSITIVITY AND SPECIFICITY; STANDARD; TANDEM MASS SPECTROMETRY; TYROSINEMIA;

EID: 65949099515     PISSN: 02693879     EISSN: 10990801     Source Type: Journal    
DOI: 10.1002/bmc.1049     Document Type: Article

References (10)

1. Al-Dirbashi OY, Rashed MS, ten Brink HJ, Jakobs C, Filimban N, Al-Ahaidib LY, Jacob M, Al-Sayed MMA, Al-Hassnan Z and Faqeih E. Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry. Journal of Chromatography B 2006; 831: 274-280.
2. Allard P, Grenier A, Korson MS and Zytkovicz TH. Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots. Clinical Biochemistry 2004; 37: 1010-1015.
3. Chakrapani A and Holme E. Disorders of tyrosine metabolism. In Inborn metabolic diseases, Fernandes J, Saudubray JM, van den Berghe G and Walter JH (eds), Springer: Heidelberg, 2006; 235.
4. Holme E. Disorders of tyrosine degradation. In Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases, Blau N, Duran M, Blaskovics ME and Gibson KM (eds). Springer: Berlin, 2003; 141.
5. Johnson DW, Gerace R, Ranieri E, Trinh M and Fingerhut R. Analysis of succinylacetone as a Girard T derivative in urine and dried blood spots by flow injection electrospray ionization tandem mass spectrometry. Rapid Communications in Mass Spectrometry 2007; 21: 59-63.
6. Kvittingen EA. Tyrosinaemia-treatment and outcome. Journal of Inherited Metabolic Diseases 1995; 18: 375-379.
7. Lindblad B, Lindstedt S and Steen G. On the enzymic defects in hereditary tyrosinemia. Proceedings of the National Academy of Sciences 1977; 74: 4641-4645.
8. Lindstedt S, Holme E, Lock EA Hjalmarson O and Strandvik B. Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 1992; 340: 813-817.
9. Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo R and Matern D. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. Molecular Genetics and Metabolism 2006; 88: 16-21.
10. Mitchell GA, Grompe M, Lambert M and Tanguay RM. Hypertyrosinemia. In The Metabolic and Molecular Bases of Inherited Disease, Scriver CR, Beaudet AL, Sly WS and Valle D (eds). McGraw-Hill: New York, 2001; 1777.