Congenital disorder of glycosylation

Congenital disorders of glycosylation
Congenital disorders of glycosylation
Specialty	Neurology

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.^[1] The most common sub-type is PMM2-CDG (formerly known as CDG-Ia) where the genetic defect leads to the loss of phosphomannomutase 2 (PMM2), the enzyme responsible for the conversion of mannose-6-phosphate into mannose-1-phosphate.^[2]

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^ Schollen, E.; Pardon, E.; Heykants, L.; Renard, J.; Doggett, N.A.; Callen, D.F.; Cassiman, J.J.; Mathijs, G. (1998). "Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene". Human Molecular Genetics. 7 (2): 157–164. doi:10.1093/hmg/7.2.157. PMID 9425221.