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Review
. 2022 Apr 27;12(5):398.
doi: 10.3390/metabo12050398.

Understanding Inborn Errors of Metabolism through Metabolomics

Karen Driesen  1   2   3 , Peter Witters  3   4
Affiliations
Review

Understanding Inborn Errors of Metabolism through Metabolomics

Karen Driesen et al. Metabolites. .

Abstract

Inborn errors of metabolism (IEMs) are rare diseases caused by a defect in a single enzyme, co-factor, or transport protein. For most IEMs, no effective treatment is available and the exact disease mechanism is unknown. The application of metabolomics and, more specifically, tracer metabolomics in IEM research can help to elucidate these disease mechanisms and hence direct novel therapeutic interventions. In this review, we will describe the different approaches to metabolomics in IEM research. We will discuss the strengths and weaknesses of the different sample types that can be used (biofluids, tissues or cells from model organisms; modified cell lines; and patient fibroblasts) and when each of them is appropriate to use.

Keywords: inborn errors of metabolism; metabolomics; stable isotopes.

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Conflict of interest statement

The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Figures

Figure 2
Figure 2
Overview of the information that can be obtained from both in vitro models in metabolomics studies of IEM.
Figure 1
Figure 1
Overview of the different biological models for the study of IEM and the subsequent information that can be obtained from metabolomics studies.
See this image and copyright information in PMC

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