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Master Thesis

Détermination du profil des acylcarnitines plasmatiques par spectrométrie de masse en tandem : développement de la technique et intérêt pour le diagnostic de maladies héréditaires du métabolisme

Abstract : Mitochondrial fatty acid β-oxidation disorders are a group of inherited metabolic disorders. Nowadays, almost twenty disorders are known. These diseases can occur at any age and in various ways such as hypoglycemia, cardiomyopathy or rhabdomyolysis... The biochemical diagnosis is based on the acylcarnitine profiling studies. Indeed, carnitine is able to detoxify the acyl-coenzyme A which are accumulating in the mitochondria. They can thus be found as acylcarnitines, which pile up with β-oxidation disorders. We developed a method of acylcarnitine profiling in plasma by tandem mass spectrometry. Indeed today, mass spectrometry, thanks to its many advantages, has become a powerful and essential diagnostic tool for medical biology. Method criteria were analyzed (stability, analytical interferences, anticoagulant use, repeatability, reproducibility...) and biological validation limits were also studied. Thus, the Grenoble University Hospital is now able to offer a full check-up for intermediary metabolism and can respond to the emergency of such diagnosis.
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https://dumas.ccsd.cnrs.fr/dumas-00640975
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Submitted on : Monday, November 14, 2011 - 3:29:57 PM
Last modification on : Tuesday, May 11, 2021 - 11:36:16 AM
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  • HAL Id : dumas-00640975, version 1

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Laetitia van Noolen. Détermination du profil des acylcarnitines plasmatiques par spectrométrie de masse en tandem : développement de la technique et intérêt pour le diagnostic de maladies héréditaires du métabolisme. Sciences pharmaceutiques. 2011. ⟨dumas-00640975⟩

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