Chapter 163. Congenital Disorders of Glycosylation

Genetic Diseases of Protein N-Glycosylation

Jaak Jaeken

Topics Discussed: carbohydrate-deficient glycoprotein syndrome type i; congenital disorders of glycosylation; deficiency of mannose-6-phosphate isomerase; genetics and dysmorphology; glucosyltransferase i.

Sections: Genetic Diseases of Protein O-Glycosylation, Genetic Diseases of Protein N- and O-Glycosylation, References.

Excerpt:"Eighteen diseases are known in protein N-glycosylation: 14 assembly defects (CDG-I group), designated CDG-Ia through CDG-In, and four processing defects (CDG-II group), designated CDG-IIa through CDG-IId. We discuss only CDG-Ia, CDG-Ib, and CDG-Ic in some detail, since all the other diseases are very rare. The latter are summarized in eTable 163.1...."

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