Akademik Veri Yönetim Sistemi
SSIEM Annual Symposium, Freiburg, Almanya, 30 Ağustos - 02 Eylül 2022, ss.414
SSIEM22-2210Novel diagnostic/laboratory methods including omicsEvaluation of succinylacetone and nitisinone measurement: analytical performance requirementsList of authors:Ridvan Murat Öktem*⠀⠀1, Asli Inci⠀⠀1, Gürsel Biberoglu⠀⠀1, Ilyas Okur⠀⠀1, Fatih Süheyl Ezgü⠀⠀1, Leyla Tümer⠀⠀11 Gazi University, Ankara* = presenting authorBackground: While blood succinylacetone measurement is used in the diagnosis of type 1 tyrosinemia, simultaneous nitisinoneand succinylacetone measurements are used in the follow-up of treatment. In this study, we aimed to demonstrate the analyticalperformance of succinylacetone and nitisinone test methods in our laboratory.Case Study / Methods: Serum and dried blood samples for succinylacetone and nitisinone were obtained from suspectedpatients and patients with tyrosinemia type I during treatment follow-up. Both analyses were performed by LC-MS/MS with WatersXevo TQD. CDC control samples were used for succinylacetone and in-house prepared with spike control samples were used foraccuracy for nitisinone. In-house prepared standard sets were used for linearity and LLOQ-LOD studies.Results: Bias were between -1 and 9,8% for succinylacetone and CVs were 9,8-13,2% for within-run and 12,6-16,5 for inter-runreproducibility. LLOQ was defined as 1,0 μmol/L and LOD was 0,5 μmol/L where the calibration curve linear with a regressioncoefficient (R2) 0,990. CVs were 9,5-13,4% for within-run and 5,8-9,4% for inter-run reproducibility for nitisinone. Calibration curvewas linear with a regression coefficient (R2) 0,992. 10 patient samples for used for dry blood vs plasma comparison for nitisinone.Regression coefficient (R2) was 0,995 and plasma/dry blood sample ratio was 1,92.Conclusion / Discussion: In the measurement of succinylacetone and nitisinone, it can be aimed to keep within-run andinter-run CV below 15%. 1 μmol/L appears to be a suitable LOQ for succinylacetone measurement. In our study, it was observedthat the plasma nitisinone level was 1.92 times higher than in simultaneous dry blood samples.Keywords:Tyrosinemia, succinylacetone, nitisinone