Section 11. Inherited Disorders of Metabolism >
Part 7. Organelle Related Disorders >
Chapter 163. Congenital Disorders of Glycosylation
Genetic Diseases of Protein N-GlycosylationJaak 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
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