Rapid LC-MS/MS Method for Targeted Assay of Creatine Deficiency Syndromes in Morocco
Faïza Meiouet1, François Boemer2
1Laboratoire de Recherche et d'Analyses Médicales de la Gendarmerie Royale, Rabat 10100, Morocco.
Metabolites
|June 25, 2026
Summary
A new liquid chromatography-tandem mass spectrometry method accurately measures creatine deficiency syndromes (CDS) biomarkers in plasma and urine. This rapid assay enhances diagnostic capacity for rare neurometabolic disorders in Morocco.
Area of Science:
- Biochemistry
- Clinical Chemistry
- Mass Spectrometry
Background:
- Creatine deficiency syndromes (CDS) are rare neurometabolic disorders impacting creatine metabolism.
- Early diagnosis of AGAT, GAMT, and SLC6A8 deficiencies is vital for neurodevelopmental outcomes.
- Morocco prioritizes expanding inherited metabolic disorder diagnostics using LC-MS/MS.
Purpose of the Study:
- To develop and validate a rapid LC-MS/MS method for quantifying creatine (Cr), guanidinoacetate (GAA), and creatinine (Crn).
- To support the expansion of the LC-MS/MS biomarker panel for inherited metabolic disorders in Morocco.
Main Methods:
- Simultaneous quantification of Cr, GAA, and Crn in plasma and urine.
- Utilized isotopically labelled internal standards and standardized sample preparation.
- Validated analytical performance according to ISO 15189:2022 standards.
Main Results:
- Achieved excellent linearity (r² > 0.99) and robust precision (CV < 10%).
- Demonstrated low limits of detection for Cr and GAA in both plasma and urine.
- Reported a rapid 1.1-minute run time per sample, suitable for high-throughput analysis.
Conclusions:
- The developed LC-MS/MS method is rapid, accurate, and reliable for measuring key CDS biomarkers.
- This assay expands the diagnostic capabilities for inherited metabolic disorders in Morocco.
- Contributes to strengthening diagnostic capacity and reducing diagnostic delays for rare neurometabolic conditions.
