CDG syndrome

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CDG syndrome is an abbreviation for Congenital Disorders of Glycosylation. CDG are rare inherited metabolic conditions which affect human development and physiology. They often cause extremely serious and potentially fatal medical problems in affected infants.

CDG are classified as CDG type-I, -II, -III and -IV, depending on the location of the biochemical defect in the metabolic pathway relative to the action of oligosaccharyltransferase. Currently, twelve CDG type-I variants have been identified (CDG-IA to -IL) and four variants of CDG Type-II have been described (CDG-IIA to -IID). They are all caused by abnormal synthesis of the sugar groups which form parts of glycoproteins. This leads to disorders of nerves, liver and intestines. The specific effects differ according to the particular abnormal synthesis involved.

Ocular abnormalities of CDG-Ia include: Myopia, infantile esotropia, delayed visual maturation, low vision, optic pallor, and reduced rod function on electroretinography (Oph Genetics 24:81-88, 2003).

For a thorough scientific overview of defects of N-glycan synthesis, one can consult chapter 74 of OMMBID^[1]. For more online resources and references, see inborn error of metabolism.

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1. ^ Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (Accessed 2007). The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. - Summaries of 255 chapters, full text through many universities. There is also the OMMBID blog.