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: 570 relevant articles (0 outcomes, 22 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Galactosemias (Galactosemia)
2.	Congenital disorder of glycosylation type II
3.	Fructose Intolerance (Intolerance, Fructose)
4.	Lipodystrophy
5.	Type IIB Congenital Disorder Of Glycosylation

Experts

1.	Freeze, Hudson H: 34 articles (11/2022 - 03/2002)
2.	Jaeken, Jaak: 32 articles (02/2022 - 11/2002)
3.	Matthijs, Gert: 30 articles (11/2021 - 03/2002)
4.	Lefeber, Dirk J: 26 articles (01/2022 - 12/2005)
5.	Morava, Eva: 25 articles (01/2022 - 11/2003)
6.	Ng, Bobby G: 19 articles (11/2022 - 07/2010)
7.	Foulquier, François: 18 articles (11/2020 - 04/2007)
8.	Jaeken, J: 17 articles (09/2017 - 06/2000)
9.	Wevers, Ron A: 16 articles (12/2015 - 11/2003)
10.	Barone, Rita: 13 articles (02/2022 - 12/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Disorders of Glycosylation:

1.	Polysaccharides (Glycans)IBA 10/01/2016 - "Insights into glycan susceptibility factors are provided by studies in the normal brain and congenital disorders of glycosylation, which are often accompanied by ASD-like behaviors. " 01/01/2014 - "Our study demonstrates that N-glycans of Kv3.1b contain information regarding the association, clustering, and distribution of Kv3.1b in the cell membrane, and furthermore that decreased occupancy caused by congenital disorders of glycosylation may alter the biological activity of Kv3.1b." 04/23/2010 - "Glycosylation-deficient Chinese Hamster Ovary (CHO) cell lines can be used to expand our understanding of N-glycosylation pathways and to study Congenital Disorders of Glycosylation, diseases caused by defects in the synthesis of N-glycans. " 08/15/2022 - "The platform with the developed droplet protocol was applied successfully for mapping N-linked glycans released from human sera, serving for diagnostic screening of congenital disorders of glycosylation." 08/15/2022 - "Lab-in-droplet: From glycan sample treatment toward diagnostic screening of congenital disorders of glycosylation."
2.	phosphomannomutaseIBA 01/01/2022 - "Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies." 01/01/2019 - "Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain." 01/01/2009 - "The most common form is phosphomannomutase deficiency or congenital disorders of glycosylation type Ia with an autosomal recessive inheritance and incidence estimated at 1/20000-1/50000 live born. " 08/01/2005 - "The most common type of the congenital disorders of glycosylation, CDG-Ia, is caused by mutations in the human PMM2 gene, reducing phosphomannomutase (PMM) activity. " 03/15/2002 - "A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia."
3.	Proteins (Proteins, Gene)FDA Link 09/20/2022 - "Defects in LLO biosynthesis produce human Congenital Disorders of Glycosylation Type I. The synthesis of LLOs and the transfer reactions to their protein acceptors is highly conserved among animal, plant, and fungi kingdoms, making the fission yeast Schizosaccharomyces pombe a suitable model to study these processes. " 01/01/2014 - "Recently, a de novo missense mutation in ALG13 has been reported in a patient with X-linked congenital disorders of glycosylation type I. Our study reports the first case of NSXLID caused by a mutation in ALG13 involved in protein N-glycosylation." 01/01/2023 - "TMEM165 is a Golgi protein playing a crucial role in Mn2+ transport, and whose mutations in patients are known to cause Congenital Disorders of Glycosylation. " 01/01/2023 - "Introduction: Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of metabolic disorders caused by abnormal protein or lpid glycosylation. " 01/01/2023 - "Congenital disorders of glycosylation (CDG) are a group of heterogeneous inherited metabolic disorders affecting posttranslational protein modification. "
4.	Glycoproteins (Glycoprotein)IBA 01/01/1995 - "Carbohydrate-deficient glycoprotein syndrome: electrophoretic study of multiple serum glycoproteins." 04/17/2023 - "Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation." 03/01/2023 - "Congenital disorders of glycosylation (CDG) are associated with ciliary dysfunction due to altered glycosylation of ciliary glycoproteins. " 01/01/2022 - "Congenital disorders of glycosylation (CDG) include 150 genetically and clinically heterogeneous diseases, showing significant glycoprotein hypoglycosylation that leads to pathological consequences in multiple organs and systems whose underlying mechanisms are not yet understood. " 01/01/2021 - "Congenital disorders of glycosylation (CDG) are a genetically heterogeneous group of disorders caused by defects in the synthesis and processing of glycoproteins. "
5.	Congenital disorder of glycosylation type 1AIBA 01/01/2023 - "We studied fifty individuals enrolled in the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) natural history study with molecularly confirmed diagnosis of PMM2-CDG. " 01/01/2022 - "Twenty-five patients with diagnosis of PMM2-CDG were enrolled as part of the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) natural history study. " 01/01/2023 - "PMM2-CDG is the most common defect among the congenital disorders of glycosylation. " 01/01/2023 - "PMM2-CDG is the most prevalent type of congenital disorders of glycosylation (CDG). " 01/01/2022 - "The structural cerebellar involvement that we document for the first time resembles the neuropathology reported in N-linked congenital disorders of glycosylation (CDG) such as PMM2-CDG, suggesting defects in multiple glycosylation pathways in this condition."
6.	LipidsIBA 01/01/2023 - "Congenital disorders of glycosylation (CDG) are a group of heterogeneous disorders caused by abnormal lipid or protein glycosylation. " 01/01/2006 - "In view of an abnormal lipid distribution and lipodystrophy, metabolic studies for congenital disorders of glycosylation have been performed with normal results. " 02/01/2019 - "Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases due to impaired lipid and protein glycosylation. " 01/01/2023 - "Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. " 01/01/2023 - "Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by defects in various defects of protein or lipid glycosylation pathways. "
7.	Transferrin (beta 2 Transferrin)IBA 01/01/2022 - "Electrospray ionization (ESI) mass spectrometry of transferrin can be used to diagnose congenital disorders of glycosylation (CDG) by detecting abnormal N-glycosylation due to reduced site occupancy or processing failure. " 01/01/2022 - "Electrospray Ionization Mass Spectrometry of Transferrin: Use of Quadrupole Mass Analyzers for Congenital Disorders of Glycosylation." 10/01/2021 - "The transferrin isoelectric focusing (TIEF) test is a screening test for congenital disorders of glycosylation (CDG). " 08/01/2021 - "We identified three cases of congenital disorders of glycosylation (CDG) with Golgi homeostasis disruption, one ATP6V0A2-CDG and two COG4-CDG, with normal transferrin screening analyses. " 11/01/2020 - "To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017. "
8.	Mannose (D-Mannose)IBA 03/30/1999 - "These results are consistent with the possible use of mannose as a therapeutic agent in carbohydrate deficient glycoprotein syndrome Ib and Ix." 03/30/1999 - "All together, our results demonstrate quantitative and/or qualitative modifications in mannose transport of all carbohydrate deficient glycoprotein syndrome fibroblasts in comparison to control cells, with a relative homogeneity within a considered subtype of carbohydrate deficient glycoprotein syndrome. " 03/30/1999 - "We showed that a specific mannose transport system exists in all the cells tested but has different characteristics with respect to carbohydrate deficient glycoprotein syndrome subtypes. " 03/30/1999 - "Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients." 10/01/1997 - "Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I."
9.	Protein Isoforms (Isoforms)IBA 11/01/2020 - "Here, we analyzed all serum Bkn isoforms in a context of congenital disorders of glycosylation (CDG) and showed very specific abnormal patterns suggesting potential interests for their screening and diagnosis. " 11/01/2020 - "Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies." 10/26/2017 - "Mutations in ppGalNAc-T3 isoform cause diseases (congenital disorders of glycosylation) in humans. " 03/05/2021 - "Transferrin isoform analysis from dried blood spots and serum samples by gel isoelectric focusing for screening congenital disorders of glycosylation." 01/01/2018 - "This report also alerts clinicians that transferrin isoform measurements do not identify all patients with congenital disorders of glycosylation."
10.	Mannose-6-Phosphate Isomerase (Mannose 6 Phosphate Isomerase)IBA 09/01/2009 - "Phosphomannose isomerase (PMI) deficiency or congenital disorders of glycosylation type Ib (CDG Ib) is the only CDG that can be treated. " 09/01/2000 - "Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)." 06/01/1998 - "Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation." 04/01/1998 - "Phosphomannose isomerase (PMI) deficiency is the cause of a new type of carbohydrate-deficient glycoprotein syndrome (CDGS). " 01/01/2013 - "A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation."

Therapies and Procedures

1.	Therapeutics 11/18/2022 - "Chemical Therapies for Congenital Disorders of Glycosylation." 01/01/2022 - "A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation." 01/01/2020 - "An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation." 11/07/2017 - "Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)." 01/01/2016 - "Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation."
2.	Lasers (Laser) 07/01/2005 - "Glycoproteomics of N-glycosylation by in-gel deglycosylation and matrix-assisted laser desorption/ionisation-time of flight mass spectrometry mapping: application to congenital disorders of glycosylation." 02/01/1994 - "Diagnosis of carbohydrate-deficient glycoprotein syndrome by matrix-assisted laser desorption time-of-flight mass spectrometry." 04/01/2021 - "Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation." 01/01/2020 - "Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry to Detect Diagnostic Glycopeptide Markers of Congenital Disorders of Glycosylation." 02/01/1994 - "Serum transferrin from patients with carbohydrate-deficient glycoprotein syndrome was analysed by matrix-assisted laser desorption time-of-flight mass spectrometry (MALDI-TOF mass spectrometry). "
3.	Heart Transplantation (Grafting, Heart) 03/01/2013 - "From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)."
4.	Estrogen Replacement Therapy 01/01/2023 - "Congenital disorders of glycosylation are a group of rare related disorders causing multisystem dysfunction, including ovarian failure in females that requires early estrogen replacement. "
5.	Cochlear Implants (Cochlear Implant) 03/01/2014 - "Congenital disorders of glycosylation: first deaf patient treated with a cochlear implant."