Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.
Clin Chem Lab Med
; 62(10): 1991-2000, 2024 Sep 25.
Article
em En
| MEDLINE
| ID: mdl-38456798
ABSTRACT
OBJECTIVES:
Early diagnosis of inborn errors of metabolism (IEM) is crucial to ensure early detection of conditions which are treatable. This study reports on targeted metabolomic procedures for the diagnosis of IEM of amino acids, acylcarnitines, creatine/guanidinoacetate, purines/pyrimidines and oligosaccharides, and describes its validation through external quality assessment schemes (EQA).METHODS:
Analysis was performed on a Waters ACQUITY UPLC H-class system coupled to a Waters Xevo triple-quadrupole (TQD) mass spectrometer, operating in both positive and negative electrospray ionization mode. Chromatographic separation was performed on a CORTECS C18 column (2.1 × 150, 1.6⯵m). Data were collected by multiple reaction monitoring.RESULTS:
The internal and EQA results were generally adequate, with a few exceptions. We calculated the relative measurement error (RME) and only a few metabolites displayed a RME higher than 30â¯% (asparagine and some acylcarnitine species). For oligosaccharides, semi-quantitative analysis of an educational panel clearly identified the 8 different diseases included.CONCLUSIONS:
Overall, we have validated our analytical system through an external quality control assessment. This validation will contribute to harmonization between laboratories, thus improving identification and management of patients with IEM.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Espectrometria de Massas em Tandem
/
Erros Inatos do Metabolismo
Limite:
Humans
Idioma:
En
Revista:
Clin Chem Lab Med
Assunto da revista:
QUIMICA CLINICA
/
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Espanha