ESI-MS/MS measurement of free carnitine and its precursor γ-butyrobetaine in plasma and dried blood spots from patients with organic acidurias and fatty acid oxidation disorders

Molecular Genetics and Metabolism
Sonja Primassin, Ute Spiekerkoetter

Abstract

In patients with fatty acid oxidation disorders (FAODs) and organic acidurias (OAs) "secondary carnitine deficiency" occurs. In OAs carnitine supplementation is widely performed and dose is often adjusted to blood-free carnitine levels. Dried blood spots (DBS) are mostly used to measure carnitine status, however measurements in plasma are discussed to be more accurate. The concentration and the predictive value of the carnitine precursor γ-butyrobetaine in blood during carnitine deficiency are unknown. Free carnitine and γ-butyrobetaine were quantified by tandem mass spectrometry in plasma and DBS from supplemented patients with OAs (n=18) and unsupplemented patients with FAODs (n=66) and were compared with healthy controls (n=50). Carnitine concentrations in plasma were significantly higher than in DBS. In contrast, γ-butyrobetaine concentrations in plasma were significantly lower than in DBS. Supplemented patients had high free carnitine concentrations in combination with high γ-butyrobetaine concentrations. Unsupplemented carnitine palmitoyltransferase I-deficient patients had exceptionally high free carnitine concentrations without elevated γ-butyrobetaine, however, carnitine in plasma was much lower than in DBS. In patient...Continue Reading

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Citations

Jul 21, 2015·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Julien RousselJean Yves Le Guennec
May 4, 2013·Molecular Genetics and Metabolism·Monique G M de Sain-van der VeldenNanda M Verhoeven-Duif
Sep 17, 2016·Pediatrics International : Official Journal of the Japan Pediatric Society·Shin-Ichiro HagiwaraSeiichi Kagimoto
Nov 16, 2016·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Qian LiuAihua Yin
Sep 11, 2019·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Mohammed AlmannaiAyman W El-Hattab
Feb 11, 2020·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Qian LiuJing Wu
Oct 20, 2020·International Journal of Neonatal Screening·Stuart J MoatRachel S Carling
Feb 10, 2021·International Journal of Neonatal Screening·Stuart J MoatRachel S Carling

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