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The Advanced Technology and Clinical Application in Metabolomics

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Clinical Metabolomics Applications in Genetic Diseases

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Abstract

Metabolomics identifies and quantifies small molecules (metabolites) using high-throughput techniques. The biological system metabolome integrates metabolomics data in conjugation with metabolic pathways, including other omics datasets, to produce a network of endogenous metabolites (metabotype) associated with the phenotypes. Nuclear magnetic resonance (NMR) spectroscopy and mass spectrometry are the main analytical techniques in combination with some separation techniques such as capillary electrophoresis, ultra-high-pressure liquid chromatography, and gas chromatography. The drastic improvement in the detection sensitivity and accuracy of the analytical techniques has widened the covered metabolomics. The comprehensive coverage of metabolomics becomes more integrated with other omics datasets to understand the system-level phenotypic changes and provide insight into the mechanisms that underlie various physiological conditions and diseases. This chapter highlights analytical methods for clinical metabolomics research and personalized medicine. Several innovative clinical metabolomics projects have reached up to patient services are discussed in this chapter.

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Abbreviations

4MOP:

4-Methyl-2-oxopentanoic acid

BHBA:

β-hydroxybutyric acid

BSTFA:

N,O-bis(trimethylsilyl)trifluoroacetamide

CE:

Capillary electrophoresis

CI:

Chemical ionization

EHMN:

Edinburgh human metabolic network

ESI:

Electrospray ionization

FFPE:

Formalin-fixed paraffin-embedded

GSEA:

Gene set enrichment analysis

HIES:

Hyper-IgE syndromes

HILIC:

Hydrophilic interaction liquid chromatography

HRM:

High-resolution metabolomics

ICR:

Ion cyclotron resonance

LC-MS:

Liquid chromatography-mass spectrometry

LGPC:

Linoleoylglycerophosphocholine

LIT:

Linear quadrupole ion trap

NAFLD:

Nonalcoholic fatty liver disease

NMR:

Nuclear magnetic resonance

QIT:

Quadrupole ion trap

ROC:

Receiver operating characteristic

SMPDB:

Small Molecule Pathway Database

TOF:

Time of flight

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Authors and Affiliations

  1. Metabolomics Section, Department of Clinical Genomics, Center for Genome Medicine, King Faisal Specialist Hospital & Research Center (KFSHRC), Riyadh, Saudi Arabia

    Anas M. Abdel Rahman

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Correspondence to Anas M. Abdel Rahman .

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  1. Metabolomics Section, Department of Clinical Genomics, Center for Genome Medicine, King Faisal Specialist Hospital & Research Center (KFSHRC), Riyadh, Saudi Arabia

    Anas M. Abdel Rahman

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Abdel Rahman, A.M. (2023). The Advanced Technology and Clinical Application in Metabolomics. In: Abdel Rahman, A.M. (eds) Clinical Metabolomics Applications in Genetic Diseases. Springer, Singapore. https://doi.org/10.1007/978-981-99-5162-8_1

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  • DOI: https://doi.org/10.1007/978-981-99-5162-8_1

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