Diseases of glycosylation

Stable Identifier
Homo sapiens
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Diseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosyl transfer events and vesicular transport. Most CDGs cause neurological impairment ranging from severe psychomotor retardation to mild intellectual disability. Defects in N-glycosylation are the main cause of CDGs (Marquardt & Denecke 2003, Grunewald et al. 2002, Hennet 2012, Goreta et al. 2012) and can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Jaeken et al. 1984, Stibler & Jaeken 1990). Disorders of O-glycosylation, glycosaminoglycan and glycolipid metabolism have recently been discovered and, together with N-glycosylation, represent the major pathways affected by glycan biosynthetic disorders (Freeze 2006, Jaeken 2011). In addition, glycosylation diseases associated with the enzymes that mediate the biosynthesis of glycosylation precursors are described in this section. As the number of these disorders has increased, nomenclature has been simplified so that now, the name of the mutant gene is followed by the abbreviation CDG (Jaeken et al. 2009). Effective therapies for most types of CDGs are so far not available (Thiel & Korner 2013).
Literature References
PubMed ID Title Journal Year
22983739 Therapies and therapeutic approaches in Congenital Disorders of Glycosylation

Thiel, C, K├Ârner, C

Glycoconj. J. 2013
21384229 Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

Jaeken, J

J. Inherit. Metab. Dis. 2011
12756558 Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

Denecke, J, Marquardt, T

Eur. J. Pediatr. 2003
2301971 Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome

Stibler, H, Jaeken, J

Arch. Dis. Child. 1990
12409504 Congenital disorders of glycosylation: a review

Grunewald, S, Matthijs, G, Jaeken, J

Pediatr. Res. 2002
16755287 Genetic defects in the human glycome

Freeze, HH

Nat. Rev. Genet. 2006
22343051 Diseases of glycosylation beyond classical congenital disorders of glycosylation

Hennet, T

Biochim. Biophys. Acta 2012
22838182 Insights into complexity of congenital disorders of glycosylation

Goreta, SS, Dabelic, S, Dumic, J

Biochem Med (Zagreb) 2012
19765534 CDG nomenclature: time for a change!

Freeze, HH, Matthijs, G, Jaeken, J, Hennet, T

Biochim. Biophys. Acta 2009
6543331 Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

Eeckels, R, Corbeel, L, van der Heul, C, Eggermont, E, van Eijk, HG, Jaeken, J

Clin. Chim. Acta 1984
Name Identifier Synonyms
congenital disorder of glycosylation DOID:5212 carbohydrate-deficient glycoprotein syndrome
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