Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias

Libert, R.; Hoof, F. Van; Thillaye, M; Vincent, Marie‐Françoise; Nassogne, Marie‐Cécile; Hoffmann, Edmond de; Schanck, André

doi:10.1016/s0009-8981(00)00195-9

Cited by 11 publications

(5 citation statements)

References 8 publications

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“…Diseases of propionic acid metabolism, most notably, propionic and methylmalonic acidemias, result in a widely dysregulated metabolome (21)(22)(23) ( Fig. 5A ) was consistent with the labiality of the deuterium atoms on the ␣ -carbon atom (C2) during CoA thioester formation.…”

Section: Discussionsupporting

confidence: 55%

Metabolism of propionic acid to a novel acyl-coenzyme A thioester by mammalian cell lines and platelets

Snyder

Basu

Worth

et al. 2015

Journal of Lipid Research

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Section: Discussionsupporting

confidence: 55%

Metabolism of propionic acid to a novel acyl-coenzyme A thioester by mammalian cell lines and platelets

Snyder

Basu

Worth

et al. 2015

Journal of Lipid Research

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“…However, the differences in all urinary metabolites between the two trials did not reach statistical significance. Urinary excretion of acylcarnitines negatively correlates with fat oxidation, 18 but it was not affected by suvorexant in the present study. The effect of suvorexant on urinary metabolites required further studies with larger number of subjects.…”

Section: Discussioncontrasting

confidence: 67%

Orexin receptor antagonist increases fat oxidation and suppresses protein catabolism during sleep in humans

Park,

Yoshitake,

Kioka

et al. 2024

iScience

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“…New metabolites continue to be discovered even in well-studied diseases (21,22,31 ), and the metabolomics approach permits analysis of an unprecedented range of compounds. In this study, metabolites such as unsaturated acylcarnitines, isovaleryl carnitine, and ␥-butyrobetaine were associated with MMA and PA.…”

Section: Discussionmentioning

confidence: 99%

Metabolomics Identifies Perturbations in Human Disorders of Propionate Metabolism

et al. 2007

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Background: We applied untargeted mass spectrometrybased metabolomics to the diseases methylmalonic acidemia (MMA) and propionic acidemia (PA). Methods: We used a screening platform that used untargeted, mass-based metabolomics of methanolextracted plasma to find significantly different molecular features in human plasma samples from MMA and PA patients and from healthy individuals. Capillary reverse phase liquid chromatography (4 L/min) was interfaced to a TOF mass spectrometer, and data were processed using nonlinear alignment software (XCMS) and an online database (METLIN) to find and identify metabolites differentially regulated in disease. Results: Of the approximately 3500 features measured, propionyl carnitine was easily identified as the best biomarker of disease (P value 1.3 ؋ 10 ؊18 ), demonstrating the proof-of-concept use of untargeted metabolomics in clinical chemistry discovery. Five additional acylcarnitine metabolites showed significant differentiation between plasma from patients and healthy individuals, and ␥-butyrobetaine was highly increased in a subset of patients. Two acylcarnitine metabolites and numerous unidentified species differentiate MMA and PA. Many metabolites that do not appear in any public database, and that remain unidentified, varied significantly between normal, MMA, and PA, underscoring the complex downstream metabolic effects resulting from the defect in a single enzyme. Conclusions: This proof-of-concept study demonstrates that metabolomics can expand the range of metabolites

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Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias

Cited by 11 publications

References 8 publications

Metabolism of propionic acid to a novel acyl-coenzyme A thioester by mammalian cell lines and platelets

Metabolism of propionic acid to a novel acyl-coenzyme A thioester by mammalian cell lines and platelets

Orexin receptor antagonist increases fat oxidation and suppresses protein catabolism during sleep in humans

Metabolomics Identifies Perturbations in Human Disorders of Propionate Metabolism

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