LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders

Overview

Journal Metabolites

Publisher MDPI

Date 2021 Jun 2

PMID 34072483

Citations 1

Authors

Henry Gerd Klemp

Matthias Kettwig

Frank Streit

Jutta Gartner

Hendrik Rosewich

Ralph Kratzner

Affiliations

Soon will be listed here.

Abstract

Peroxisomes are central hubs for cell metabolism and their dysfunction is linked to devastating human disorders, such as peroxisomal biogenesis disorders and single peroxisomal enzyme/protein deficiencies. For decades, biochemical diagnostics have been carried out using classical markers such as very long-chain fatty acids (VLCFA), which can be inconspicuous in milder and atypical cases. Holistic metabolomics studies revealed several potentially new biomarkers for peroxisomal disorders for advanced laboratory diagnostics including atypical cases. However, establishing these new markers is a major challenge in routine diagnostic laboratories. We therefore investigated whether the commercially available AbsoluteIDQ p180 kit (Biocrates Lifesciences), which utilizes flow injection and liquid chromatography mass spectrometry, may be used to reproduce some key results from previous global metabolomics studies. We applied it to serum samples from patients with mutations in peroxisomal target genes , , and the gene. Here we found various changes in sphingomyelins and lysophosphatidylcholines. In conclusion, this kit can be used to carry out extended diagnostics for peroxisomal disorders in routine laboratories, even without access to a metabolomics unit.

Citing Articles

Dysfunctional peroxisomal lipid metabolisms and their ocular manifestations.

Chen C, Shao Z, Fu Z Front Cell Dev Biol. 2022; 10:982564.

PMID: 36187472 PMC: 9524157. DOI: 10.3389/fcell.2022.982564.

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