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Congenital disorders of glycosylation

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Ferens-Sieczkowska M.
Postępy Higieny i Medycyny Doświadczalnej
|
2003
|
vol. 57
|
issue 4
425-444
EN
Congenital disorders of glycosylation are group of hereditary 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.
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