Desórdenes Congénitos de la Glicosilación

ASTEGGIANO, CARLA

Cusco

Congreso; VIII Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquiza Neonatal; 2011

SLEIMPN

Congenital Disorders of Glycosylation (CDG) are a growing group of human inherited metabolic diseases caused by defects in the synthesis or remodeling of N- and O-glycans, as well as in glycosphingolipids and glycophosphatidylinositol anchors. Glycoproteins play an important role in many biological processes such as growth, differentiation, organ development, signal transduction and immunologic defense, among others. In the last two decades, the molecular defects of more than 49 different inherited human glycosylation disorders have been identified, including protein and lipid glycosylation deficiencies. However, there is still a large group of unsolved CDG-x cases. The clinical spectrum is variable, ranging from severe multisystem disorders to alteration of specific organs such as MO patients (EXT1/EXT2-CDG). The aim of these studies is to increase awareness of a new chapter in human glycobiology, in order to study the cellular and molecular biology of genetic defects in human glycosylation.