scholarly journals Our Experience with Diagnostics of Congenital Disorders of Glycosylation

2004 ◽  
Vol 47 (4) ◽  
pp. 267-272 ◽  
Author(s):  
Ziad Albahri ◽  
Eliška Marklová ◽  
Hubert Vaníček ◽  
Lenka Minxová ◽  
Petr Dědek ◽  
...  
Keyword(s):  
Metabolic Disease ◽  
Isoelectric Focusing ◽  
Congenital Disorders ◽  
Serum Transferrin ◽  
Congenital Disorders Of Glycosylation ◽  
Healthy Controls ◽  
Protein Variants

The aim of this study is to report our 3years experience with the screening of congenital disorders of glycosylation. A common isoelectric focusing method with immunofixation was used for analysis of serum transferrin and α1-antitrypsin, apart from several other procedures. A group of about 1000 individuals, both healthy controls and patients, mostly with signs of a metabolic disease were examined. Here we present an overview of 1) hypoglycosylation findings, 2) distribution of protein variants, 3) misguiding rare Tf variants found in our set, and 4) association of some phenotypes with various diseases.

Quantification of total serum transferrin and transferrin sialoforms in human serum; an alternative method for the determination of carbohydrate-deficient transferrin in clinical samples

2014 ◽  
Vol 6 (12) ◽  
pp. 3967-3974 ◽  
Author(s):  
Yoana Nuevo Ordonez ◽  
Raymond F. Anton ◽  
W. Clay Davis
Keyword(s):  
Biochemical Marker ◽  
Clinical Samples ◽  
Total Serum ◽  
Congenital Disorders ◽  
Serum Transferrin ◽  
Congenital Disorders Of Glycosylation ◽  
Chronic Alcohol ◽  
Chronic Alcohol Consumption ◽  
Carbohydrate Deficient Transferrin

Carbohydrate deficient transferrin (CDT) is a biochemical marker for congenital disorders of glycosylation (CDG), chronic alcohol consumption, and forensic medicine diagnosis.

scholarly journals Diagnosis of Congenital Disorders of Glycosylation by Capillary Zone Electrophoresis of Serum Transferrin

2004 ◽  
Vol 50 (1) ◽  
pp. 101-111 ◽  
Author(s):  
Hubert A Carchon ◽  
Roland Chevigné ◽  
Jean-Bernard Falmagne ◽  
Jaak Jaeken
Keyword(s):  
Capillary Zone Electrophoresis ◽  
Reference Group ◽  
Congenital Disorders ◽  
Serum Transferrin ◽  
Congenital Disorders Of Glycosylation ◽  
Zone Electrophoresis ◽  
Carbohydrate Deficient Transferrin ◽  
Group A ◽  
Capillary Zone ◽  
Relative Migration

Abstract Background: Congenital disorders of glycosylation (CDG) are usually diagnosed by isoelectric focusing (IEF) of serum transferrin (Tf). The aim of this study was to evaluate capillary zone electrophoresis (CZE) as a diagnostic alternative to IEF. Methods: We performed 792 CZE analyses of Tf, using the CEofixTM-CDT (carbohydrate-deficient transferrin) assay. Peak identification was based on relative migration times (RMTs) to reduce migration variability. Results: Tf profiles comprised three main groups (A–C). Groups A and B were characterized by one or two dominant tetrasialo-Tf peaks, whereas group C showed a widely variable Tf isoform composition. Group A was composed of four subgroups: a major group with a typical Tf profile (considered as reference group), two minor groups with decreased or moderately increased trisialo-Tf isoform, and a group showing the presence of unknown compounds with RMTs similar to mono- and disialo-Tf. However, these compounds were absent on IEF. Group C contained all profiles from patients with confirmed as well as putative CDG. From the reference group, 99% confidence intervals were calculated for the RMTs of the Tf isoforms, and percentiles representing the Tf isoform distributions were defined. Conclusions: All patients with abnormal IEF results and confirmed CDG were identified by CZE; thus, this method can be used as a diagnostic alternative to IEF in a manner suitable for automation. Because whole serum is analyzed, it should be kept in mind that CZE profiles can show substances other than Tf.

scholarly journals Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of Glycosylation

2020 ◽  
Vol 21 (20) ◽  
pp. 7635 ◽  
Author(s):  
Agnes L. Hipgrave Ederveen ◽  
Noortje de Haan ◽  
Melissa Baerenfaenger ◽  
Dirk J. Lefeber ◽  
Manfred Wuhrer
Keyword(s):  
Sialic Acid ◽  
Plasma Proteins ◽  
Protein Glycosylation ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Healthy Controls ◽  
Total Plasma ◽  
Intact Proteins ◽  
Linkage Isomers ◽  
Specific Effects

Protein N-glycosylation is a multifactorial process involved in many biological processes. A broad range of congenital disorders of glycosylation (CDGs) have been described that feature defects in protein N-glycan biosynthesis. Here, we present insights into the disrupted N-glycosylation of various CDG patients exhibiting defects in the transport of nucleotide sugars, Golgi glycosylation or Golgi trafficking. We studied enzymatically released N-glycans of total plasma proteins and affinity purified immunoglobulin G (IgG) from patients and healthy controls using mass spectrometry (MS). The applied method allowed the differentiation of sialic acid linkage isomers via their derivatization. Furthermore, protein-specific glycan profiles were quantified for transferrin and IgG Fc using electrospray ionization MS of intact proteins and glycopeptides, respectively. Next to the previously described glycomic effects, we report unprecedented sialic linkage-specific effects. Defects in proteins involved in Golgi trafficking (COG5-CDG) and CMP-sialic acid transport (SLC35A1-CDG) resulted in lower levels of sialylated structures on plasma proteins as compared to healthy controls. Findings for these specific CDGs include a more pronounced effect for α2,3-sialylation than for α2,6-sialylation. The diverse abnormalities in glycomic features described in this study reflect the broad range of biological mechanisms that influence protein glycosylation.

scholarly journals Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1227
Author(s):  
Grace Silver ◽  
Shalini Bahl ◽  
Dawn Cordeiro ◽  
Abhinav Thakral ◽  
Taryn Athey ◽  
...  
Keyword(s):  
Isoelectric Focusing ◽  
Statistical Tests ◽  
Genetic Diseases ◽  
Cost Effective ◽  
Congenital Disorders ◽  
Childhood Epilepsy ◽  
Congenital Disorders Of Glycosylation ◽  
Exact Test ◽  
Liver Functions ◽  
Effective Diagnosis

Introduction: Childhood epilepsy is one of the most common neurological problems. The transferrin isoelectric focusing (TIEF) test is a screening test for congenital disorders of glycosylation (CDG). We identified abnormal TIEF test in children with epilepsy in our epilepsy genetics clinic. To determine if an abnormal TIEF test is associated with anti-epileptic medications or abnormal liver functions, we performed a retrospective cohort study. Methods: This study was performed between January 2012 and March 2020. Electronic patient charts were reviewed. Standard non-parametric statistical tests were applied using R statistical software. Fischer’s exact test was used for comparisons. Results: There were 206 patients. The TIEF test was abnormal in 11% (23 out of 206) of the patients. Nine patients were diagnosed with CDG: PMM2-CDG (n = 5), ALG3-CDG (n = 1), ALG11-CDG (n = 2), SLC35A2-CDG (n = 1). We report 51 different genetic diseases in 84 patients. Two groups, (1) abnormal TIEF test; (2) normal TIEF test, showed statistically significant differences for abnormal liver functions and for valproic acid treatment. Conclusion: The TIEF test guided CDG diagnosis in 2.9% of the patients. Due to the high prevalence of CDG (4.4%) in childhood epilepsy, the TIEF test might be included into the diagnostic investigations to allow earlier and cost-effective diagnosis.

scholarly journals Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center

2020 ◽  
Vol 96 (6) ◽  
pp. 710-716
Author(s):  
Ana Paula Pereira Scholz de Magalhães ◽  
Maira Graeff Burin ◽  
Carolina Fischinger Moura de Souza ◽  
Fernanda Hendges de Bitencourt ◽  
Fernanda Medeiros Sebastião ◽  
...  
Keyword(s):  
Isoelectric Focusing ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation

scholarly journals Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center

2020 ◽  
Vol 96 (6) ◽  
pp. 710-716
Author(s):  
Ana Paula Pereira Scholz de Magalhães ◽  
Maira Graeff Burin ◽  
Carolina Fischinger Moura de Souza ◽  
Fernanda Hendges de Bitencourt ◽  
Fernanda Medeiros Sebastião ◽  
...  
Keyword(s):  
Isoelectric Focusing ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation

Screening for congenital disorders of glycosylation (CDG): Transferrin HPLC versus isoelectric focusing (IEF)

2009 ◽  
Vol 42 (4-5) ◽  
pp. 408-415 ◽  
Author(s):  
Ester Quintana ◽  
Aleix Navarro-Sastre ◽  
José María Hernández-Pérez ◽  
Judit García-Villoria ◽  
Raquel Montero ◽  
...  
Keyword(s):  
Isoelectric Focusing ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation

scholarly journals Transferrin isoform analysis from dried blood spots and serum samples by gel isoelectric focusing for screening congenital disorders of glycosylation

2021 ◽  
Author(s):  
Anna Bogdańska ◽  
Dariusz Kozłowski ◽  
Magdalena Pajdowska ◽  
Patryk Lipiński ◽  
Anna Tylki-Szymańska
Keyword(s):  
Isoelectric Focusing ◽  
Dried Blood Spots ◽  
Dried Blood Spot ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Serum Samples ◽  
Postmortem Diagnosis ◽  
Glycoprotein Synthesis ◽  
Gel Isoelectric Focusing ◽  
Blood Spot

Congenital disorders of glycosylation (CDG) are a growing, heterogeneous group of genetic disorders caused by a defect in the glycoprotein synthesis. The first and still widely used method for routine CDG screening was isoelectric focusing (IEF) of serum transferrin. Dried blood spot (DBS) testing is commonly used in newborn screening procedures to detect inborn errors of metabolism. The aim of this study was to demonstrate the reliability of the IEF method in DBS testing. Dried blood spot testing can help in the postmortem diagnosis of CDG disorders when other material is unavailable. The patterns and concentrations of transferrin isoforms in serum and DBS are comparable, and slight differences do not affect interpretation of results.

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