Platelet Membrane Glycoprofiling in a PMM2-CDG Patient

Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis glycoconjugates. CDG have been described sugar-nucleotide biosynthesis and transporter, glycosyltransferases, vesicular transport, as well lipid glycosylphosphatidylinositol anchors. PMM2-CDG is mutations phosphomannomutase-2 (PMM2) gene shows autosomal recessive inheritance. It affects all organs tissues, ranging from severe psychomotor retardation to moderate intellectual disability. Alterations primary haemostatic system reported these patients they can lead bleeding or excessive thrombosis with subsequent vascular insufficiency. Despite being most common CDG, platelet sialylation remain incompletely characterized. In this study, we applied a lectin-based flow cytometry approach report first characterization highly glycosylated membrane glycan profile patient. patient’s samples, decreased binding SNA lectin, indicative reduced terminal α-2-6 sialic acid content, an increased PNA suggesting desialylation β-1-N-acetylgalactosamine residues, were observed. Reduced expression acids glycoproteins may contribute risk hemorrhage promoting clearance thrombocytopenia.