Understanding Inborn Errors of Metabolism through Metabolomics
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 I...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-04-01
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| Series: | Metabolites |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2218-1989/12/5/398 |
| _version_ | 1827667921137041408 |
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| author | Karen Driesen Peter Witters |
| author_facet | Karen Driesen Peter Witters |
| author_sort | Karen Driesen |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T03:26:59Z |
| format | Article |
| id | doaj.art-66170b61b4f34221b9d0ce0867602f5e |
| institution | Directory Open Access Journal |
| issn | 2218-1989 |
| language | English |
| last_indexed | 2024-03-10T03:26:59Z |
| publishDate | 2022-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Metabolites |
| spelling | doaj.art-66170b61b4f34221b9d0ce0867602f5e2023-11-23T12:06:49ZengMDPI AGMetabolites2218-19892022-04-0112539810.3390/metabo12050398Understanding Inborn Errors of Metabolism through MetabolomicsKaren Driesen0Peter Witters1Metabolomics Expertise Center, Center for Cancer Biology, VIB Center for Cancer Biology, 3000 Leuven, BelgiumDepartment of Development and Regeneration, Katholieke Universiteit Leuven, 3000 Leuven, BelgiumInborn 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.https://www.mdpi.com/2218-1989/12/5/398inborn errors of metabolismmetabolomicsstable isotopes |
| spellingShingle | Karen Driesen Peter Witters Understanding Inborn Errors of Metabolism through Metabolomics Metabolites inborn errors of metabolism metabolomics stable isotopes |
| title | Understanding Inborn Errors of Metabolism through Metabolomics |
| title_full | Understanding Inborn Errors of Metabolism through Metabolomics |
| title_fullStr | Understanding Inborn Errors of Metabolism through Metabolomics |
| title_full_unstemmed | Understanding Inborn Errors of Metabolism through Metabolomics |
| title_short | Understanding Inborn Errors of Metabolism through Metabolomics |
| title_sort | understanding inborn errors of metabolism through metabolomics |
| topic | inborn errors of metabolism metabolomics stable isotopes |
| url | https://www.mdpi.com/2218-1989/12/5/398 |
| work_keys_str_mv | AT karendriesen understandinginbornerrorsofmetabolismthroughmetabolomics AT peterwitters understandinginbornerrorsofmetabolismthroughmetabolomics |