Type IIB Congenital Disorder Of Glycosylation

mutation in GCS1

Also Known As:

Congenital Disorder Of Glycosylation, Type IIB; CDG IIB; CDG2B; CDGIIB; Glucosidase I Deficiency

Networked: 8 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Congenital Disorders of Glycosylation: 570
        Type IIB Congenital Disorder Of Glycosylation: 8
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Congenital Disorders of Glycosylation: 570
        Type IIB Congenital Disorder Of Glycosylation: 8

Related Diseases

1.	Congenital Disorders of Glycosylation
2.	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
3.	Type IIB Congenital Disorder Of Glycosylation

Experts

1.	Beimdiek, Julia: 1 article (01/2022)
2.	Biskup, Saskia: 1 article (01/2022)
3.	Buettner, Falk F R: 1 article (01/2022)
4.	Burock, Robert: 1 article (01/2022)
5.	Das, Anibh M: 1 article (01/2022)
6.	Hennig, René: 1 article (01/2022)
7.	Lesinski-Schiedat, Anke: 1 article (01/2022)
8.	Puk, Oliver: 1 article (01/2022)
9.	Rapp, Erdmann: 1 article (01/2022)
10.	Anzai, Rie: 1 article (03/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type IIB Congenital Disorder Of Glycosylation:

1.	glucosidase IIBA 03/01/2019 - "This study is to present two Chinese siblings who were diagnosed with congenital disorders of glycosylation (CDG) IIb because of mannosyl-oligosaccharide glucosidase (MOGS) deficiency. " 01/01/2022 - "Rare genetic mutations of the mannosyl-oligosaccharide glucosidase (MOGS) gene affecting the function of the mannosyl-oligosaccharide glucosidase (glucosidase I) are the cause of the congenital disorder of glycosylation IIb (CDG-IIb). " 11/26/2004 - "The Lec23 Chinese hamster ovary mutant is a sensitive host for detecting mutations in alpha-glucosidase I that give rise to congenital disorder of glycosylation IIb (CDG IIb)." 10/01/2013 - "elegans demonstrate that decreased ER α-glucosidase I affects the entire N-glycan profile and induces chronic ER stress, which may contribute to the pathophysiology of CDG-IIb in humans. " 04/24/2014 - "Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG. "
2.	OligosaccharidesIBA 03/01/2021 - "Isolation and characterization of the urinary oligosaccharide was performed in one of these cases to confirm the diagnosis of CDG-IIb. " 03/01/2021 - "After detecting MOGS mutation in patient 1, we analyzed patients 2 and 3 who were siblings and had clinical features similar to those in patient 1. Urinary oligosaccharide analysis was performed to confirm CDG- IIb diagnosis in patient 1. The clinical features of these patients were analyzed and compared with those in eight published cases. " 03/01/2021 - "We aimed to describe the clinical features of CDG- IIb and the effectiveness of urinary oligosaccharide analysis in the diagnosis of CDG- IIb. " 06/01/2000 - "A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency." 04/24/2014 - "Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG. "
3.	Polysaccharides (Glycans)IBA 01/01/2022 - "Thereby, we detected the CDG-IIb-characteristic non-de-glucosylated N-glycans Glc3Man7-9GlcNAc2 as well as the free tetrasaccharide Glc3-Man in whole serum of the patient but not in the other family members. " 10/01/2013 - "elegans demonstrate that decreased ER α-glucosidase I affects the entire N-glycan profile and induces chronic ER stress, which may contribute to the pathophysiology of CDG-IIb in humans. "
4.	EnzymesIBA 04/24/2014 - "Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG. " 08/01/2002 - "Recently, we reported a novel congenital disorder of glycosylation (CDG-IIb) caused by severe deficiency of the glucosidase I. The enzyme cleaves the alpha1,2-glucose residue from the asparagine-linked Glc(3)-Man(9)-GlcNAc(2) precursor, which is crucial for oligosaccharide maturation. "
5.	Complementary DNA (cDNA)IBA 11/26/2004 - "By contrast, GCS1 cDNA with an R486T or F652L CDG IIb mutation gave substantial rescue of the Lec23 phenotype. "
6.	Transferrin (beta 2 Transferrin)IBA 03/01/2021 - "CDG-IIb shows a normal IEF profile of serum transferrin and cannot be detected by structural analysis of the patient's glycoproteins. "
7.	Immunoglobulin G (IgG)IBA 01/01/2022 - "Serum N-glycomics of a novel CDG-IIb patient reveals aberrant IgG glycosylation."
8.	Glycoproteins (Glycoprotein)IBA 03/01/2021 - "CDG-IIb shows a normal IEF profile of serum transferrin and cannot be detected by structural analysis of the patient's glycoproteins. "
9.	CarbohydratesIBA 08/01/2002 - "Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb)."
10.	AsparagineIBA 08/01/2002 - "Recently, we reported a novel congenital disorder of glycosylation (CDG-IIb) caused by severe deficiency of the glucosidase I. The enzyme cleaves the alpha1,2-glucose residue from the asparagine-linked Glc(3)-Man(9)-GlcNAc(2) precursor, which is crucial for oligosaccharide maturation. "