(redirected from Carbohydrate-deficient glycoprotein syndrome)
CDGSCarbohydrate-Deficient Glycoprotein Syndrome
CDGSCalifornia Department of General Services (West Sacramento, CA)
CDGSCongenital Disorder of Glycosylation Syndrome
Copyright 1988-2018, All rights reserved.
References in periodicals archive ?
A Carbohydrate-deficient glycoprotein syndrome (CDGS) is relatively rare but probably significantly underdiagnosed.
Capillary electrophoresis-based separation of transferrin sialoforms in patients with carbohydrate-deficient glycoprotein syndrome. Electrophoresis 1997;18:1819-26.
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type Ia.
Carbohydrate-deficient glycoprotein syndrome type IV: deficiency of dolichol P-Man:[Man.sub.5][GINAc.sub.2] PP-dolichol mannosyltransferase.
Electrospray ionization-mass spectrometric analysis of serum transferrin glycoforms in patients with carbohydrate-deficient glycoprotein syndrome. J Biochem 1993;114:766-9.
[6] Nonstandard abbreviations: CDT, carbohydrate-deficient transferrin; IEF, isoelectric focusing; CZE, capillary zone electrophoresis; and CDG, carbohydrate-deficient glycoprotein syndrome.
Congenital disorders of glycosylation [CDG; previously carbohydrate-deficient glycoprotein syndrome (1)] represent a newly delineated group of inherited diseases (2).
Reports were excluded if they dealt primarily with fetal CDT concentrations, genetic variants of transferrin or the carbohydrate-deficient glycoprotein syndrome, or transferrin variations attributable to carcinoma.
Another newly delineated group of carbohydrate-related genetic diseases is termed congenital disorders of glycosylation (CDG; previously known as carbohydrate-deficient glycoprotein syndrome) (26).
(6) There are a few nonalcohol-related medical conditions that will render a false-positive CDT result: genetic D variants of transferrin, the carbohydrate-deficient glycoprotein syndromes, chronic viral hepatitis, and end-stage liver disease.
Reported risks of false-positive CDT results include severe hepatic failure (primary biliary cirrhosis, chronic viral hepatitis, and hepatocellular carcinoma) (16-21), congenital disorders of glycosylation (CDG; formerly known as carbohydrate-deficient glycoprotein syndromes) (22, 23), genetic transferrin D variants (24, 25), pregnancy (26), estrogen use (27, 28), iron-deficiency anemia (29), low ferritin (30), high total transferrin (31, 32), combined pancreas and liver transplantation (33), and possibly, use of antiepileptic medications (34), although this was not observed in a previous study (14).
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG.
Full browser ?