Purpose: Many human disorders of glycosylation pathways have now been identified; they include defects in synthetic pathways for N-linked oligosaccharides, O-linked oligosaccharides, shared substrates, glycophosphatidylinositol (GPI) anchors, and dolichols. This overview will focus on disorders of the N-linked glycan synthetic pathway and some disorders that overlap this metabolic network (multiple-pathway disorders).
The goals of this overview on congenital disorders of glycosylation are the following:
Goal 1: To describe the clinical characteristics of congenital disorders of N-linked glycosylation
Goal 2: To review the causes of congenital disorders of N-linked glycosylation
Goal 3: To provide an evaluation strategy to identify the genetic cause of congenital disorders of glycosylation in a proband
Goal 4: To inform (when possible) management
Goal 5: To inform genetic counseling of family members of a proband with congenital disorders of N-linked glycosylation
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