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- Title
DIAGNOSTICS OF CEREBRAL CREATINE DEFICIENCY SYNDROMES USING TANDEM MASS SPECTROMETRY IN URINE AND DRY URINE SPOT.
- Authors
Helena, JURDÁKOVÁ; Tereza, VEČEREKOVÁ; Anna, ŠALINGOVÁ; Claudia, ŠEBOVÁ; Renáta, GÓROVÁ
- Abstract
Background: Creatine deficiency syndromes (CDS) are a group of inborn errors of metabolism and include disorders of creatine synthesis and transport. A common feature of these syndromes is a lack of creatine in the brain with neurological manifestation of diseases. Specific CDS biomarkers are creatine and guanidinoacetic acid (GAA), and their determination in body fluids is essential for proper diagnosis and treatment. The disadvantage is creatine instability in liquid urine sample. Aim: This work is aimed at investigating the possibility of using a dry urine spot to determine the concentration of creatine, GAA and creatinine in urine sample, and testing the stability of these analytes in a liquid matrix and a dry urine spot at different storage temperatures. Methods: Isotope dilution tandem mass spectrometry was used for the determinatin of the analytes. Results: GAA and creatinine are stable analytes in the liquid matrix as well as in dry urine spot. Creatine was stable at room temperature up to 3 hours in liquid matrix, in dry urine spot up to 24 hours. Better stability was at 4 °C, and all analytes show a good stability when stored at -20 °C. Intra- and interday precision was up to 4.4 %, and accuracy up to 13.5 % for all analytes using a dry urine spot. LOQ for creatine, GAA and creatinine were at 0.018 mmol/l, 0.016 mmol/l and 0.40 mmol/l, respectively. Conclusion: The results demonstrate the advantage of using a dry urine spot for determination of CDS biomarkers, especially for creatine due to better stability.
- Subjects
CREATININE; INBORN errors of metabolism; BODY fluids; BRAIN diseases; TANDEM mass spectrometry
- Publication
Zdravotnicke listy, 2023, Vol 11, Issue 4, p71
- ISSN
1339-3022
- Publication type
Article