Congenital Disorders of Glycosylation

A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
Also Known As:
Carbohydrate Deficient Glycoprotein Syndrome; Carbohydrate-Deficient Glycoprotein Syndromes; Syndrome, Carbohydrate-Deficient Glycoprotein; Syndromes, Carbohydrate-Deficient Glycoprotein; Carbohydrate-Deficient Glycoprotein Syndrome; Glycoprotein Syndrome, Carbohydrate-Deficient
Networked: 314 relevant articles (0 outcomes, 11 trials/studies)

Disease Context: Research Results

Related Diseases

1. Galactosemias (Galactosemia)
2. Fructose Intolerance (Intolerance, Fructose)
3. Congenital Disorders of Glycosylation
4. Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
5. Metabolic Diseases (Metabolic Disease)


1. Freeze, Hudson H: 20 articles (02/2015 - 03/2002)
2. Matthijs, Gert: 17 articles (06/2015 - 03/2002)
3. Jaeken, Jaak: 16 articles (06/2015 - 11/2002)
4. Lefeber, Dirk J: 13 articles (12/2015 - 12/2005)
5. Wevers, Ron A: 12 articles (12/2015 - 11/2003)
6. Jaeken, J: 12 articles (01/2013 - 06/2000)
7. Morava, Eva: 11 articles (12/2015 - 11/2003)
8. Matthijs, G: 11 articles (01/2015 - 09/2000)
9. Seta, N: 10 articles (09/2012 - 02/2000)
10. Körner, Christian: 8 articles (11/2015 - 06/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Disorders of Glycosylation:
1. Glycoproteins (Glycoprotein)IBA
2. phosphomannomutaseIBA
3. PolysaccharidesIBA
4. Mannose (D-Mannose)IBA
5. Mannose-6-Phosphate Isomerase (Mannose 6 Phosphate Isomerase)IBA
6. Apolipoprotein C-IIIIBA
08/01/2015 - "The O-glycan abnormalities accompanying some congenital disorders of glycosylation, namely conserved oligomeric Golgi-congenital disorders of glycosylation (COG-CDGs) and ATP6V0A2-CDGs, are mainly detected using electrophoresis methods applied to circulating apolipoprotein C-III. The objective of this study was to evaluate the reliability of MALDI-TOF MS of apoC-III for the detection and characterization of CDG-associated O-glycan defects. "
11/01/2003 - "Plasma samples from patients with the primary congenital disorders of glycosylation (CDG) types Ia-Ic, Ie, If, IIa, and IId all showed a normal apoC-III isofocusing profile. "
02/01/2007 - "Plasma samples from patients with congenital disorders of glycosylation (CDG) types -IIe and -IIf showed a hypoglycosylated apoC-III isoform profile, as did plasma samples from 75% of the patients with an unspecified CDG type II. Hyposialylated O-glycan profiles were also seen in plasma from 2 patients with hemolytic-uremic syndrome. "
08/01/2012 - "Apolipoprotein C-III (apoCIII) is a small glycoprotein with a single mucin-type core-1 oligosaccharide and is analyzed by isoelectric focusing (IEF) for the diagnosis of genetic defects in O-glycan biosynthesis such as congenital disorders of glycosylation. "
12/01/2005 - "We hypothesized that IEF of transferrin and apoC-III in combination with sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) of apoC-III may provide a classification for congenital disorders of glycosylation (CDG) patients. "
7. Immunoglobulins (Immunoglobulin)IBA
8. HormonesIBA
9. Blood Coagulation Factors (Coagulation Factor)IBA
10. prostaglandin R2 D-isomerase (prostaglandin D2 synthase)IBA

Therapies and Procedures

1. Lasers (Laser)
2. Heart Transplantation (Grafting, Heart)
3. Cochlear Implants (Cochlear Implant)
4. Anesthesia