Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)

Stable Identifier
R-HSA-4793953
Type
Pathway
Species
Homo sapiens
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Congenital disorders of glycosylation (CDG, previously called carbohydrate-deficient glycoprotein syndromes, CDGSs), are a group of hereditary multisystem disorders. They are characterized biochemically by hypoglycosylation of glycoproteins, diagnosed by isoelectric focusing (IEF) of serum transferrin. There are two types of CDG, types I and II. Type I CDG has defects in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. Clinical symptoms are dominated by severe psychomotor and mental retardation, as well as blood coagulation abnormalities (Jaeken 2013). B4GALT1-CDG (CDG type IId) is a multisystem disease, characterized by dysmorphic features, hydrocephalus, hypotonia and blood clotting abnormalities (Hansske et al. 2002).

Literature References
PubMed ID Title Journal Year
11901181 Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId

Hansske, B, Thiel, C, Lübke, T, Hasilik, M, Höning, S, Peters, V, Heidemann, PH, Hoffmann, GF, Berger, EG, von Figura, K, Körner, C

J Clin Invest 2002
23622397 Congenital disorders of glycosylation

Jaeken, J

Handb Clin Neurol 2013
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type II 0050571
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