Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient

ABSTRACT For the first time the glycosylation of a patient with a MPI‐CDG during pregnancy is monitored. MPI‐CDG, is characterised by a deficiency in mannose‐6‐phosphate isomerase (MPI) leading to a reduced pool of glycosylation precursors, impairing the biosynthesis of N‐glycans leading to N‐glycosylation defects. The abnormal N‐glycosylation profile with an elevation of asialotransferrin and disialotransferrin, typical of CDG type I, is assessable by transferrin isoelectrofocusing. Oral D‐mannose supplementation for MPI‐CDG patients has been widely used and improves clinical manifestations. The glycosylation of a MPI‐CDG patient during pregnancy without mannose supplementation was studied using carbohydrate deficient transferrin (CDT) assay, transferrin isoelectrofocusing (IEF) and mass spectrometry of total serum N‐glycans. A general improvement of the glycosylation profile of the patient due to a better transfer of the glycan precursors as well as an increase of the triantennary glycans (and sialylation) was observed. In conclusion, in the absence of mannose supplementation, the previously observed glycosylation abnormality of the MPI‐CDG patient was corrected. The molecular mechanism underlying this N‐glycosylation rescue during MPI‐CDG pregnancy further needs to be investigated.