Klinke, Glynis; Richter, Sylvia; Monostori, Peter; Schmidt-Mader, Brigitte; Garcia-Cazorla, Angels; Artuch, Rafael; Christ, Stine; Opladen, Thomas; Hoffmann, Georg F.; Blau, Nenad; Okun, Juergen G. published an article in 2020, the title of the article was Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.Quality Control of 5-(Hydroxymethyl)pyrimidine-2,4(1H,3H)-dione And the article contains the following content:
Laboratory investigations of cerebrospinal fluid (CSF) are essential when suspecting an inborn error of metabolism (IEM) involving neurol. features. Available tests are currently performed on different anal. platforms, requiring a large sample volume and long turnaround time, which often delays timely diagnosis. Therefore, it would be preferable to have an one-instrument targeted multi-metabolite approach. A liquid chromatog.-tandem mass spectrometry (LC-MS/MS) platform, based on two different methods for analyzing 38 metabolites using pos. and neg. electrospray ionisation modes, was established. To allow for platform extension, both methods were designed to use the same CSF sample preparation procedure and to be run on the same separation column (ACE C18-PFP). Assessment of the LC-MS/MS platform methods was first made by anal. validation, followed by the establishment of literature-based CSF cut-off values and reference ranges, and by the measurement of available samples obtained from patients with confirmed diagnoses of aromatic -amino acid decarboxylase deficiency, guanidinoacetate methyltransferase deficiency, ornithine aminotransferase deficiency, cerebral folate deficiency and methylenetetrahydrofolate reductase deficiency. An extendable targeted LC-MS/MS platform was developed for the anal. of multiple metabolites in CSF, thereby distinguishing samples from patients with IEM from non-IEM samples. Reference concentrations for several biomarkers in CSF are provided for the first time. By measurement on a single anal. platform, less sample volume is required (200μL), diagnostic results are obtained faster, and preanal. issues are reduced. LC-MS/MS platform for CSF anal. consisting of two differentially designed methods. The experimental process involved the reaction of 5-(Hydroxymethyl)pyrimidine-2,4(1H,3H)-dione(cas: 4433-40-3).Quality Control of 5-(Hydroxymethyl)pyrimidine-2,4(1H,3H)-dione
The Article related to cerebrospinal fluid inborn error metabolism lcms ms analysis, cerebrospinal fluid, inborn errors of metabolism, inherited metabolic diseases, liquid chromatography coupled to tandem mass spectrometry, reference ranges, targeted metabolomics and other aspects.Quality Control of 5-(Hydroxymethyl)pyrimidine-2,4(1H,3H)-dione
Referemce:
Pyrimidine | C4H4N2 – PubChem,
Pyrimidine – Wikipedia