• Transl Res · Apr 2024

    Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant.

    • Zoé Durin, Alexandre Raynor, François Fenaille, Sophie Cholet, Sandrine Vuillaumier-Barrot, Jean-Meidi Alili, Joël Poupon, Nouzha Djebrani Oussedik, Caroline Tuchmann-Durand, Jennifer Attali, Romain Touzé, Thierry Dupré, Elodie Lebredonchel, Marlyse Angah Akaffou, Dominique Legrand, Pascale de Lonlay, Arnaud Bruneel, and François Foulquier.
    • Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, F-59000 Lille, France.
    • Transl Res. 2024 Apr 1; 266: 576757-67.

    AbstractTMEM165-CDG has first been reported in 2012 and manganese supplementation was shown highly efficient in rescuing glycosylation in isogenic KO cells. The unreported homozygous missense c.928G>C; p.Ala310Pro variant leading to a functional but unstable protein was identified. This patient was diagnosed at 2 months and displays a predominant bone phenotype and combined defects in N-, O- and GAG glycosylation. We administered for the first time a combined D-Gal and Mn2+ therapy to the patient. This fully suppressed the N-; O- and GAG hypoglycosylation. There was also striking improvement in biochemical parameters and in gastrointestinal symptoms. This study offers exciting therapeutic perspectives for TMEM165-CDG.Copyright © 2023 The Author(s). Published by Elsevier Inc. All rights reserved.

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