, Volume 34, Issue 4, pp 849-852,
Open Access This content is freely available online to anyone, anywhere at any time.
Date: 08 Jul 2011

How to find and diagnose a CDG due to defective N-glycosylation

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The group of Congenital Disorders of Glycosylation (CDG) is expanding rapidly since the first clinical description of the N-glycosylation defect PMM2-CDG (CDG-Ia) in 1980 (Jaeken et al. 1980). Since then, more than 50 defects have been identified in protein N-glycosylation (some of them also associated with an O-glycosylation defect), in protein O-glycosylation only and in lipid glycosylation (GPI anchor and glycosphingolipid synthesis). Here, we provide a simple approach to the clinical, biochemical and genetic diagnosis of CDG due to a N-glycosylation defect (including combined N- and O-glycosylation defects).

When to consider a CDG due to a N-glycosylation defect

Most CDG with a N-glycosylation defect are multi-organ diseases with neurological involvement. Only few of these CDG are known as non-neurological disorders, such as MPI-CDG (de Lonlay and Seta 2009), DPM3-CDG (Lefeber et al. 2009) and SEC23B-CDG (Schwarz et al. 2009). Nearly all organs have been reported to be affected in CD ...

Communicated by: Verena Peters
Competing interest: None declared.