Congenital Defects of Glycosylation: Disorders of N-Glycan Synthesis

  • Jaak Jaeken


Five inborn errors in the pathway of N-glycan synthesis [also called congenital defects of glycosyla?tion, CDG syndromes] are known and are depicted in Fig. 38.1. Phosphomannomutase (PMM) deficiency, reported in the large majority of these patients, is a multisystem disease with, as a rule, severe brain involvement.


Carbohydrate Fructose Cardiomyopathy Proteinuria Oligosaccharide 


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© Springer-Verlag Berlin Heidelberg 2000

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  • Jaak Jaeken

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