Novel LC-MS tools for diagnosing inborn errors of metabolism

Ivanovová, Eliška; Piskláková, Barbora; Dobešová, Dana; Kvasnička, Aleš; Friedecký, David

doi:10.1016/j.microc.2021.106654

Cited by 6 publications

(2 citation statements)

References 184 publications

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“…Together, these findings show that diet's therapeutic effects on the lipidome are evident in various human diseases. Ultimately, a clinical-chemical-bioinformatics method is proposed, using recurrent chemical techniques such as NMR [111] and mass spectrometry [112] , for the study of the lipidome in various human diseases (Figure 2).…”

Section: Lipidomics In Response To Diet: We Are What We Eatmentioning

confidence: 99%

Lipidomics as a Tool in the Diagnosis and Clinical Therapy

Sánchez¹,

Ontiveros²,

Arreola³

et al. 2023

Fatty Acids - From Biosynthesis to Human Health

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The lipids are essential compounds of cells, with biochemical and structural properties. Lipids are classified according to their chain length or saturation levels and biogenesis. Lipidomics is a spectroscopic and spectrometric technique, like Mass Spectrometry and Nuclear Magnetic Resonance, as well as bioinformatics to quantify and characterize the lipid profile. Lipidomics enables the fundamental understanding of lipid biology, the identification of drug targets for therapy, and the discovery of lipid biomarkers of disease cohorts. Therefore, lipidomics allows knowing the diagnosis and clinical follow-up in medical therapy towards any disease. In this way, the lipid profile allows us to monitor the administration of a clinical treatment and assertively diagnose human diseases.

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Section: Lipidomics In Response To Diet: We Are What We Eatmentioning

confidence: 99%

Lipidomics as a Tool in the Diagnosis and Clinical Therapy

Sánchez¹,

Ontiveros²,

Arreola³

et al. 2023

Fatty Acids - From Biosynthesis to Human Health

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“…In FAODs, changes in lipids, namely in free and esterified FAs of plasma, dried blood spots (DBSs), and tissues have been reported. Despite minimal evidence that polar lipids, the main components of cell/organelle membranes and signalling molecules, can be affected in FAODs, the plasticity of the profile of these complex lipids has been scarcely studied [11,12].…”

Section: Introductionmentioning

confidence: 99%

Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review

Guerra

Ferreira

Melo

et al. 2022

IJMS

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Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism (IEMs) caused by defects in the fatty acid (FA) mitochondrial β-oxidation. The most common FAODs are characterized by the accumulation of medium-chain FAs and long-chain (3-hydroxy) FAs (and their carnitine derivatives), respectively. These deregulations are associated with lipotoxicity which affects several organs and potentially leads to life-threatening complications and comorbidities. Changes in the lipidome have been associated with several diseases, including some IEMs. In FAODs, the alteration of acylcarnitines (CARs) and FA profiles have been reported in patients and animal models, but changes in polar and neutral lipid profile are still scarcely studied. In this review, we present the main findings on FA and CAR profile changes associated with FAOD pathogenesis, their correlation with oxidative damage, and the consequent disturbance of mitochondrial homeostasis. Moreover, alterations in polar and neutral lipid classes and lipid species identified so far and their possible role in FAODs are discussed. We highlight the need of mass-spectrometry-based lipidomic studies to understand (epi)lipidome remodelling in FAODs, thus allowing to elucidate the pathophysiology and the identification of possible biomarkers for disease prognosis and an evaluation of therapeutic efficacy.

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