Platelet Membrane Glycoprofiling in a PMM2-CDG Patient
- Papazoglu, Gabriela Magali
- Silvera Ruiz, Silene Maite
- Salinas, R.
- Pereira, Beatriz María Inés
- Cubilla, Marisa Angelica
- Pesaola, Favio Nicolas
- Ghione, S.
- Ramadán, N.
- Martinez Duncker, I.
- Asteggiano, Carla Gabriela
DOIAbstract
Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, vesicular transport, as well as in lipid biosynthesis and glycosylphosphatidylinositol anchors. PMM2-CDG is caused by mutations in the phosphomannomutase-2 (PMM2) gene and shows autosomal recessive inheritance. It affects all organs and tissues, ranging from severe psychomotor retardation to moderate intellectual disability. Alterations in the primary haemostatic system have been reported in these patients and they can lead to severe bleeding or excessive thrombosis with subsequent vascular insufficiency. Despite of...
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