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

(Translational research : the journal of laboratory and clinical medicine, v266:57-67)

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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Title	Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant.
Date	2024-04-01
Issue name	Translational research : the journal of laboratory and clinical medicine
Issue number	v266:57-67
DOI	10.1016/j.trsl.2023.11.005
PubMed	38013006
Authors	Durin Z, Raynor A, Fenaille F, Cholet S, Vuillaumier-Barrot S, Alili JM, Poupon J, Oussedik ND, Tuchmann-Durand C, Attali J, Touzé R, Dupré T, Lebredonchel E, Akaffou MA, Legrand D, de Lonlay P, Bruneel A & Foulquier F
Keywords	Glycosylation, Golgi, Manganese, TMEM165, galactose
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