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Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS.
Biomed Chromatogr 2008; 22(11):1181-5BC

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 x 50 mm, 1.7 microm) 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 13C4 labeled succinylacetone as an internal standard, the calibration plot was linear up to 100 micromol/L with a detection limit (S/N = 3) of 0.2 micromol/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 micromol/L (n = 151). In dried blood spots from patients with established tyrosinemia type 1 (n = 11), concentration of succinylacetone was 6.4-30.8 micromol/L.

Authors+Show Affiliations

National Laboratory for Newborn Screening, Department of Genetics, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh 11211, Saudi Arabia. dirbashi@kfshrc.edu.saNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18651606

Citation

Al-Dirbashi, Osama Y., et al. "Improved Method to Determine Succinylacetone in Dried Blood Spots for Diagnosis of Tyrosinemia Type 1 Using UPLC-MS/MS." Biomedical Chromatography : BMC, vol. 22, no. 11, 2008, pp. 1181-5.
Al-Dirbashi OY, Rashed MS, Jacob M, et al. Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS. Biomed Chromatogr. 2008;22(11):1181-5.
Al-Dirbashi, O. Y., Rashed, M. S., Jacob, M., Al-Ahaideb, L. Y., Al-Amoudi, M., Rahbeeni, Z., ... Al-Zeidan, H. (2008). Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS. Biomedical Chromatography : BMC, 22(11), pp. 1181-5. doi:10.1002/bmc.1049.
Al-Dirbashi OY, et al. Improved Method to Determine Succinylacetone in Dried Blood Spots for Diagnosis of Tyrosinemia Type 1 Using UPLC-MS/MS. Biomed Chromatogr. 2008;22(11):1181-5. PubMed PMID: 18651606.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS. AU - Al-Dirbashi,Osama Y, AU - Rashed,Mohamed S, AU - Jacob,Minnie, AU - Al-Ahaideb,Lujane Y, AU - Al-Amoudi,Mohamed, AU - Rahbeeni,Zuhair, AU - Al-Sayed,Moeen M, AU - Al-Hassnan,Zuhair, AU - Al-Owain,Mohamed, AU - Al-Zeidan,Hamad, PY - 2008/7/25/pubmed PY - 2009/7/9/medline PY - 2008/7/25/entrez SP - 1181 EP - 5 JF - Biomedical chromatography : BMC JO - Biomed. Chromatogr. VL - 22 IS - 11 N2 - 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 x 50 mm, 1.7 microm) 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 13C4 labeled succinylacetone as an internal standard, the calibration plot was linear up to 100 micromol/L with a detection limit (S/N = 3) of 0.2 micromol/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 micromol/L (n = 151). In dried blood spots from patients with established tyrosinemia type 1 (n = 11), concentration of succinylacetone was 6.4-30.8 micromol/L. SN - 1099-0801 UR - https://www.unboundmedicine.com/medline/citation/18651606/Improved_method_to_determine_succinylacetone_in_dried_blood_spots_for_diagnosis_of_tyrosinemia_type_1_using_UPLC_MS/MS_ L2 - https://doi.org/10.1002/bmc.1049 DB - PRIME DP - Unbound Medicine ER -