Congenital disorder of glycosylation

has 7 synonyms ↓

• "CDG Syndrome"
• Carbohydrate deficient glycoprotein syndrome
• Carbohydrate-deficient glycoprotein syndrome
• CDG syndrome
• CDG syndrome type 1A
• Congenital disorders of glycosylation
• Congenital disorder]]s of glycosylation
• Suggest another synonym or correct a wrong one

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1. one of several rare inborn errors of metabolism in which N-glycosylation of a variety of tissue proteins is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes

   

   created by factobot on February 23, 2009

2. previously called carbohydrate-deficient glycoprotein syndrome

   

   created by factobot on February 23, 2009

3. They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants

   

   created by factobot on February 23, 2009

4. They were discovered in the late 1990s

   history

   created by factobot on February 23, 2009

5. Delineation of types and manifestations has been expanding rapidly, with several new forms described each year since then

   history

   created by factobot on February 23, 2009

6. The CDG Family Network

   

   created by factobot on February 23, 2009

7. CDG are classified as CDG types I and II (CDG-I and CDG-II), depending on the nature and location of the biochemical defect in the metabolic pathway relative to the action of oligosaccharyltransferase

   classification

   created by factobot on February 23, 2009

8. The specific problems produced differ according to the particular abnormal synthesis involved

   presentation

   created by factobot on February 23, 2009

9. No treatment is available for most of these disorders. Mannose supplementation has produced some benefits in a couple of the Type I subtypes

   treatment

   created by factobot on February 23, 2009

10. Several synthetic glycoconjugate compounds have been synthesized and are being tested for therapeutic efficacy

    treatment

    created by factobot on February 23, 2009