Portal de Periódicos da CAPES

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

2008; Wiley; Volume: 22; Issue: 11 Linguagem: Inglês

10.1002/bmc.1049

1099-0801

Osama Y. Al‐Dirbashi, Mohamed S. Rashed, Minnie Jacob, Lujane Y. Al‐Ahaideb, Mohamed Al‐Amoudi, Zuhair Rahbeeni, Moeen Al‐Sayed, Zuhair N. Al‐Hassnan, Mohamed Al‐Owain, Hamad Al‐Zeidan,

Neonatal Health and Biochemistry

Abstract We describe an improved diagnostic method for tyrosinemia type 1 based on quantifying succinylacetone in dried blood spots by ultra‐performance liquid chromatography tandem mass spectrometry. Succinylacetone extracted from a single 3/16 inch disk of specimen collection paper containing a dried blood spot was derivatized with dansylhydrazine, separated on an Acquity UPLC BEH C 18 column (2.1 × 50 mm, 1.7 µm) and detected by electrospray ionization tandem mass spectrometry. Succinylacetone derivative eluted at 0.6 min with a complete run time of 1 min. Using a 13 C 4 labeled succinylacetone as an internal standard, the calibration plot was linear up to 100 µmol/L with a detection limit (S/N = 3) of 0.2 µmol/L. Intra‐day ( n = 13) and inter‐day ( n = 10) variations were better than 10%. The cutoff level of succinylacetone in dried blood spots from healthy infants obtained by the current method was 0.63 µmol/L ( n = 151). In dried blood spots from patients with established tyrosinemia type 1 ( n = 11), concentration of succinylacetone was 6.4–30.8 µmol/L. Copyright © 2008 John Wiley & Sons, Ltd.