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Congenital Disorders of Glycosylation

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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)

Experts

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 01/01/1995 - "Carbohydrate-deficient glycoprotein syndrome: electrophoretic study of multiple serum glycoproteins." 02/06/2014 - "Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. " 01/01/2014 - "Vacancy of occupied N-glycosylation sites of glycoproteins is quite disruptive to a multicellular organism, as underlined by congenital disorders of glycosylation. " 04/01/2012 - "Congenital disorders of glycosylation (CDG) are caused by a dysfunction of glycosylation, an essential step in the manufacturing process of glycoproteins. " 11/01/2007 - "Congenital disorders of glycosylation are a recently recognized group of inherited, multisystem disorders caused by aberrant biosynthesis of glycoproteins. "
2.	phosphomannomutaseIBA 05/01/2013 - "Phosphomannomutase 2 (PMM2) deficiency represents the most frequent type of congenital disorders of glycosylation. " 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." 08/01/2001 - "Congenital disorders of glycosylation (CDG) type I are mostly due to a deficient phosphomannomutase activity, called CDG Ia. "
3.	PolysaccharidesIBA 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. " 02/13/2012 - "Further examination of the effects of these compounds in CHO cells showed that they cause extensive protein hypoglycosylation in a manner similar to type I congenital disorders of glycosylation (CDGs) since the remaining N-glycans in treated cells were complete (normal) structures. " 01/01/2010 - "Congenital disorders of glycosylation (CDG) include all genetic diseases that result from defects in the synthesis of glycans. " 05/01/2009 - "The role of glycans for proper protein folding and biological functions is illustrated in the variety and severity of clinical manifestations shared by congenital disorders of glycosylation (CDG). "
4.	Mannose (D-Mannose)IBA 07/12/2002 - "Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase." 01/01/2000 - "Congenital disorders of glycosylation caused by defects in mannose addition during N-linked oligosaccharide assembly." 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. "
5.	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."
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 10/01/1997 - "Immunoglobulin levels in patients with carbohydrate-deficient glycoprotein syndrome type I." 09/01/2008 - "This study applied yolk immunoglobulins immunoaffinity separation and MALDI-TOF MS for clinical proteomics of congenital disorders of glycosylation (CDG) and secondary glycosylation disorders [galactosemia and hereditary fructose intolerance (HFI)]. "
8.	HormonesIBA 04/01/2001 - "The congenital disorders of glycosylation (CDGs) are progressive multisystemic disorders characterized by a heterogeneous deficiency of the carbohydrate moieties in various structural and circulating glycoproteins, representing a natural model for glycoprotein hormone studies. " 04/01/2001 - "Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation." 02/01/2012 - "Whenever local facilities make it possible, we recommend array CGH investigation as the first step or, when CGH is not available, a combination of classic karyotype with systematic screening of telomeric and interstitial rearrangements by MLPA, fragile X screening in both sexes, and a reorientation of metabolic screening toward certain diseases that have recently been described: congenital disorders of glycosylation (CDG), thyroid hormone carrier deficiency, and creatine metabolism deficiency. "
9.	Blood Coagulation Factors (Coagulation Factor)IBA 08/01/2006 - "Although bleeding caused by abnormal glycosylation of various coagulation factors is a well-known clinical complication of several types of congenital disorders of glycosylation, intracranial hemorrhage has not been reported as an initial manifestation of this entity. " 05/01/1993 - "Because coagulation factors and inhibitors are also glycoproteins, we performed a systematic study of these factors and inhibitors in nine patients with carbohydrate-deficient glycoprotein syndrome. "
10.	prostaglandin R2 D-isomerase (prostaglandin D2 synthase)IBA 12/01/1997 - "In the present study human beta-trace protein from the cerebrospinal fluid (CSF) of patients with carbohydrate-deficient glycoprotein syndrome (CDGS) due to phosphomannomutase (PMM) deficiency and N-acetyl-glucosaminyltransferase II (GlcNAc-T II) deficiency as well as from control individuals was studied by Western blot analysis. " 09/20/1999 - "As carbohydrate-deficient glycoprotein syndromes (CDGS) are multisystemic disorders with impaired central nervous function in nearly all cases, we tested isoforms of beta-trace protein (beta TP), a 'brain-type' glycosylated protein in cerebrospinal fluid (CSF) of nine patients with the characteristic CDGS type I pattern of serum transferrin. "

Therapies and Procedures

1.	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." 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). "
2.	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)."
3.	Cochlear Implants (Cochlear Implant) 03/01/2014 - "Congenital disorders of glycosylation: first deaf patient treated with a cochlear implant."
4.	Anesthesia 10/01/2005 - "Anesthesia considerations in carbohydrate-deficient glycoprotein syndrome type I."