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Master Thesis

Mise en place du dépistage néonatal du déficit en acyl-CoA déshydrogénase des acides gras à chaine moyenne (MCAD) par spectrométrie de masse en tandem

Abstract : Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most frequent fatty acid oxidation defect, with an estimated incidence of 1/15 000 in France. The clinical form consists of hypoglycemic non-ketotic episodes after a period of fasting or intercurrent illness, which can quickly degenerate into a coma or even death. These episodes can be avoided with preventive measures, which consist essentially of dietary guidelines. Newborn screening is a public health program tasked with preventing the often irreversible consequences of this type of disorder through early detection, therefore allowing preventive treatment to be put in place before symptoms appear. In the context of the expansion of the newborn screening program in France to include MCAD deficiency, we implemented the multiplex assay of octanoylcarnitine, decanoylcarnitine and also phenylalanine and tyrosine (for the screening of phenylketonuria) on dried blood spots. We verified the analytical method’s performance at the CHU Grenoble-Alpes newborn screening laboratory. We have therefore validated the performance of the Chromsystems’ MassChrom® kit on the tandem mass spectrometer Waters® Xevo® TQD in the work conditions of our laboratory according to NF EN ISO 15 189 requirements. Our laboratory is now ready to start the newborn screening of MCAD deficiency, expected to be on the 3rd trimester of 2020 nationwide. It is a stepping-stone for a future greater extension of newborn screening to other inborn errors of metabolism.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-02942350
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Submitted on : Monday, September 28, 2020 - 2:10:36 PM
Last modification on : Tuesday, November 24, 2020 - 4:00:18 PM
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Fanny Zhao. Mise en place du dépistage néonatal du déficit en acyl-CoA déshydrogénase des acides gras à chaine moyenne (MCAD) par spectrométrie de masse en tandem. Médecine humaine et pathologie. 2020. ⟨dumas-02942350⟩

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