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. 2012 Sep 5;3(2):254–263. doi: 10.1016/j.nurx.2006.01.012

The congenital disorders of glycosylation: A multifaceted group of syndromes

Erik A Eklund 1,2, Hudson H Freeze 2,✉
PMCID: PMC3593443  PMID: 16554263

Summary

The congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic syndromes with a wide symptomatology and severity. They all stem from deficient N-glycosylation of proteins. To date the group contains 18 different subtypes: 12 of Type I (disrupted synthesis of the lipid-linked oligosaccharide precursor) and 6 of Type II (malfunctioning trimming/processing of the protein-bound oligosaccharide). Main features of CDG involve psychomotor retardation; ataxia; seizures; retinopathy; liver fibrosis; coagulopathies; failure to thrive; dysmorphic features, including inverted nipples and subcutaneous fat pads; and strabismus. No treatment currently is available for the vast majority of these syndromes (CDG-Ib and CDG-IIc are exceptions), even though attempts to synthesize drugs for the most common subtype, CDG-Ia, have been made. In this review we will discuss the individual syndromes, with focus on their neuronal involvement, available and possible treatments, and future directions.

Key Words: N-glycosylation, CDG, mannose, synthetic compounds, brain glycosylation, ataxia, cerebellar hypoplasia, cerebellar hypoplasia, seizures

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