CDG syndrome
From Wikipedia, the free encyclopedia
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.
[edit] External links
- Congenital disorder of glycosylation, type Ia - Geneva Foundation for Medical Education and Research
- Congenital disorder of glycosylation, type Id - Geneva Foundation for Medical Education and Research
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