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

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Durin, Zoé | Raynor, Alexandre | Fenaille, François | Cholet, Sophie | Vuillaumier-Barrot, Sandrine | Alili, Jean-Meidi | Poupon, Joël | Oussedik, Nouzha Djebrani | Tuchmann-Durand, Caroline | Attali, Jennifer | Touzé, Romain | Dupré, Thierry | Lebredonchel, Elodie | Akaffou, Marlyse Angah | Legrand, Dominique | de Lonlay, Pascale | Bruneel, Arnaud | Foulquier, François

Edité par CCSD ; Elsevier -

International audience. TMEM165-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.

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