Article
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Journal of inherited metabolic disease - 1 Mar 2021
Bérat Claire-Marine, Montealegre Sebastian, Wiedemann Arnaud, Nuzum Malou Le Corronc, Blondel Amélie, Debruge Hugo, Cano Aline, Chabrol Brigitte, Hoebeke Célia, Polak Michel, Stoupa Athanasia, Feillet François, Torre Stéphanie, Boddaert Nathalie, Bruel Henri, Barth Magalie, Damaj Lena, Abi-Wardé Marie-Thérèse, Afenjar Alexandra, Benoist Jean-François, Madrange Marine, Caccavelli Laure, Renard Perrine, Hubas Arnaud, Nusbaum Patrick, Pontoizeau Clément, Gobin Stéphanie, van Endert Peter, Ottolenghi Chris, Maltret Alice, de Lonlay Pascale
Abstract excerpt
TANGO2 disease is a severe inherited disorder associating multiple symptoms such as metabolic crises, encephalopathy, cardiac arrhythmias, and hypothyroidism. The mechanism of action of TANGO2 is currently unknown. Here, we describe a cohort of 20 French patients bearing mutations in the TANGO2 gene. We found that the main clinical presentation was the association of neurodevelopmental delay (n = 17), acute...
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