Primary Hyperoxaluria Screening and Monitoring:Quantitative Measurement of Plasma Oxalate by Gas Chromatography-Mass Spectrometry With High Sensitivity
- Author:
Mehrdad YAZDANPANAH
1
;
Jessie CAMERON
;
Chandra CHAPPEL
;
Libin YUAN
Author Information
- Publication Type:Original Article
- From:Annals of Laboratory Medicine 2024;44(3):235-244
- CountryRepublic of Korea
- Language:English
-
Abstract:
Background:Plasma oxalate measurements can be used for the screening and therapeutic monitoring of primary hyperoxaluria. We developed a gas chromatography-mass spectrometry (GC-MS) assay for plasma oxalate measurements with high sensitivity and suitable testing volumes for pediatric populations.
Methods:Plasma oxalate was extracted, derivatized, and analyzed by GC-MS. We measured the ion at m/z 261.10 to quantify oxalate and the 13 C 2-oxalate ion (m/z: 263.15) as the internal standard. Method validation included determination of the linear range, limit of blank, limit of detection, lower limit of quantification, precision, recovery, carryover, interference, and dilution effect. The cut-off value between primary and non-primary hyperoxaluria in a pediatric population was analyzed.
Results:The detection limit was 0.78 μmol/L, and the linear range was up to 80.0 μmol/L.The between-day precision was 5.7% at 41.3 μmol/L and 13.1% at 1.6 μmol/L. The carry-over was < 0.2%. The recovery rate ranged from 90% to 110%. Interference analysis showed that Hb did not interfere with plasma oxalate quantification, whereas intralipidsand bilirubin caused false elevation of oxalate concentrations. A cut-off of 13.9 μmol/L showed 63% specificity and 77% sensitivity, whereas a cut-off of 4.15 μmol/L showed 100% specificity and 20% sensitivity. The minimum required sample volume was 250 μL.The detected oxalate concentrations showed interference from instrument conditioning, sample preparation procedures, medications, and various clinical conditions.
Conclusions:GC-MS is a sensitive assay for quantifying plasma oxalate and is suitable for pediatric patients. Plasma oxalate concentrations should be interpreted in a clinical context.
