This work was supported in part by the Intramural Research Program of the National Human Genome Research Institute (NIH, Bethesda, Maryland).
Congenital disorders of glycosylation and intellectual disability
Article first published online: 24 JUN 2013
Copyright © 2013 Wiley Periodicals, Inc., a Wiley company
Developmental Disabilities Research Reviews
Special Issue: Neurodevelopmental Issues in inborn Errors of Metabolism
Volume 17, Issue 3, pages 211–225, June 2013
How to Cite
Wolfe, L. A. and Krasnewich, D. (2013), Congenital disorders of glycosylation and intellectual disability. Dev Disabil Res Revs, 17: 211–225. doi: 10.1002/ddrr.1115
- Issue published online: 24 JUN 2013
- Article first published online: 24 JUN 2013
- Manuscript Accepted: 17 MAY 2012
- metabolic disease;
- intellectual disability;
The congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn errors of metabolism that result from defects in the synthesis of glycans. Glycosylation is a major post-translational protein modification and an estimated 2% of the human genome encodes proteins for glycosylation. The molecular bases for the current 60 disorders, affecting approximately 800 individuals, have been identified, many in the last 5 years. CDG should be considered in any multi-system syndrome or single tissue disorder not explained by the identification of another disorder. The initial clinical presentation varies significantly among individuals, even between affected siblings. However, two thirds of the known CDGs are associated with intellectual disabilities and most affected individuals need support services throughout their lives. Additional disorders of glycosylation are likely to be characterized over time. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2013;17:211–225.