[Congenital disorders of glycosylation].
Congenital disorders of glycosylation are group of hereditary diseases resulting in severe psychomotor retardation and multiorgan failure. So far eleven different defects were identified on the pathway of N-glycan biosynthesis. Seven of them belong to CDG type I and result in incomplete occupation of potential N-glycosylation sites. Four defects were found in N-glycan processing. Molecular background of CDG and potential perspectives of therapy are summarised and updated in this review.
Ferens-Sieczkowska
Mirosława
M
Katedra i Zakład Chemii i Immunochemii Akademii Medycznej we Wrocławiu. mferens@immchem.am.wroc.pl
D018981:Congenital Disorders of Glycosylation / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006031:Glycosylation; D006801:Humans; D011134:Polysaccharides / Q000378:metabolism
D011134:Polysaccharides