The congenital disorders of glycosylation: a multifaceted group of syndromes.
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.
Eklund
Erik A
EA
Department of Cell and Molecular Biology, Lund University, Lund, Sweden.
Freeze
Hudson H
HH
D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy*; D006031:Glycosylation; D006801:Humans