Rapid and efficient LC-MS/MS diagnosis of inherited metabolic disorders: a semi-automated workflow for analysis of organic acids, acylglycines, and acylcarnitines in urine
Rattachement africain : cz, sk. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
OBJECTIVES: The analysis of organic acids in urine is an important part of the diagnosis of inherited metabolic disorders (IMDs), for which gas chromatography coupled with mass spectrometry is still predominantly used. METHODS: Ultra-performance liquid chromatography-tandem mass spectrometry (LC-MS/MS) assay for urinary organic acids, acylcarnitines and acylglycines was developed and validated. Sample preparation consists only of dilution and the addition of internal standards. Raw data processing is quick and easy using selective scheduled multiple reaction monitoring mode. A robust standardised value calculation as a data transformation together with advanced automatic visualisation tools are applied for easy evaluation of complex data. RESULTS: >0.98 for 118 analytes, inter-day accuracy between 80 and 120 % and imprecision under 15 % for 120 analytes were achieved. Over 2 years, more than 800 urine samples from children tested for IMDs were analysed. The workflow was evaluated on 93 patient samples and ERNDIM External Quality Assurance samples involving a total of 34 different IMDs. CONCLUSIONS: The established LC-MS/MS workflow offers a comprehensive analysis of a wide range of organic acids, acylcarnitines and acylglycines in urine to perform effective, rapid and sensitive semi-automated diagnosis of more than 80 IMDs.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Rapid and efficient LC-MS/MS diagnosis of inherited metabolic disorders: a semi-automated workflow for analysis of organic acids, acylglycines, and acylcarnitines in urine
- Date Crossref
- 19/05/2023
- Éditeur
- Walter de Gruyter GmbH
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
-
Palacký University Olomouc Institute of Molecular and Translational Medicine pays non établi dans la noticeUniversité ou école supérieure
-
University Hospital Olomouc Laboratory for Inherited Metabolic Disorders pays non établi dans la noticeÉtablissement de santé
-
Slovak Medical University pays non établi dans la noticeUniversité ou école supérieure
-
Institute of Molecular and Translational Medicine pays non établi dans la noticeStructure de recherche
-
Faculty of Medicine and Dentistry pays non établi dans la noticeUniversité ou école supérieure
-
Department of Laboratory Medicine pays non établi dans la noticeStructure de recherche
-
Faculty of Health Care pays non établi dans la noticeUniversité ou école supérieure
Institute of Molecular and Translational Medicine — Palacký University Olomouc, Laboratory for Inherited Metabolic Disorders — University Hospital Olomouc et Slovak Medical University, avec 4 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.