The congenital disorders of glycosylation: a multifaceted group of syndromes.

Summary, in English

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.

• Författare: Erik Eklund; Hudson H Freeze
• Avdelning/ar: Matrix Biology
• Publiceringsår: 2006
• Språk: Engelska
• Sidor: 63-254
• Publikation/Tidskrift/Serie: NeuroRx
• Volym: 3
• Issue: 2
• Länkar: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16554263&dopt=Abstract; http://dx.doi.org/10.1016/j.nurx.2006.01.012
• Dokumenttyp: Artikel i tidskrift
• Förlag: Springer
• Ämne: Cell and Molecular Biology
• Nyckelord: N-glycosylation; CDG; mannose; synthetic compounds; brain glycosylation; ataxia; cerebellar hypoplasia; seizures
• Status: Published
• Forskningsgrupp: Matrix Biology
• ISBN/ISSN/Övrigt: ISSN: 1545-5343