Human genes for congenital disorder of glycosylation
Congenital disorder of glycosylation [DOID:5212]
A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants. The most common subtype is CDG-Ia (also referred to as PMM2-CDG) where the genetic defect leads to the loss of phosphomannomutase 2, the enzyme responsible for the conversion of mannose-6-phosphate into mannose-1-phosphate.
Synonyms: congenital disorder of glycosylation, DOID:5212, carbohydrate-deficient glycoprotein syndrome, carbohydratedeficient glycoprotein syndrome, carbohydrate-deficient glycoprotein disease ...