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

Magalhães, Ana Paula Pereira Scholz de; Burin, Maira Graeff; Souza, Carolina Fischinger Moura de; Bitencourt, Fernanda Hendges de; Sebastião, Fernanda Medeiros; Silva, Thiago Oliveira; Vairo, Filippo Pinto e; Schwartz, Ida Vanessa Döederlein

doi:10.1016/j.jped.2019.05.008

Cited by 12 publications

(5 citation statements)

References 21 publications

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“…Magalhães et al have recently published results of an observational and retrospective study of individuals investigated by serum Tf IEF in a laboratory in southern Brazil, from 2008 to 2017 [ 19 ]. A total number of 1546 individuals underwent serum Tf IEF, of whom only four individuals were molecularly diagnosed with CDG.…”

Section: Discussionmentioning

confidence: 99%

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population

Lipiński

Bogdańska

Tylki‐Szymańska

2021

Molecular Genetics and Metabolism Reports

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Introduction The incidence and prevalence of congenital disorders of glycosylation (CDG) have not been well established. The aim of the study was to evaluate the prevalence, incidence and genotypes of CDG patients diagnosed during the last 23 years in Poland (1997 – 30th October 2020). Material and methods The diagnosis was based on serum Tf IEF which is performed at The Children's Memorial Health Institute (CMHI) in Warsaw. Based on demographic data, the prevalence of CDG among the Polish population in 2020 as well as the birth prevalence of CDG from 1990 to 2020 were estimated. Results 39 patients (from 35 families) with molecularly confirmed CDG were diagnosed, including 17 (44%) patients (from 16 families) with PMM2-CDG. The c.422G > A, p.Arg141His and c.691G > A, p.Val231Met pathogenic missense variants were the most common identified PMM2 variants. Eleven other patients were diagnosed with CDG based on serum Tf IEF analysis only; the molecular analysis is pending. Ten CDG patients died, including 6 with PMM2-CDG, 1 with PGM1-CDG and 1 with DPAGT1-CDG. The prevalence of CDG in the Polish population was estimated at approximately 1 per million while that of PMM2 at 0.4 per million. The annual incidence of CDG was estimated at 0.013 per 100,000 people in 2020. Conclusions A low frequence of CDG in our study could be underestimated.

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Section: Discussionmentioning

confidence: 99%

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population

Lipiński

Bogdańska

Tylki‐Szymańska

2021

Molecular Genetics and Metabolism Reports

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“…1 PRISMA flowchart of study selection. *Some articles were excluded for more than one reason (iii) 11 papers [38,39,42,[64][65][66][67][68][69][70][71] on the frequency of carriers of specific pathogenic variants, most of European origin, and prevalence of CDG; (iv) 9 papers [65,[72][73][74][75][76][77][78][79] on pathogenic variant allelic frequency, mostly describing PMM2 pathogenic variants; and (v) 8 other original articles, which did not focus on epidemiological data, but on data (mechanisms of disease; 3D modelling of the proteins associated with CDG, etc. ), reporting information relevant to the present work [62,[80][81][82][83][84][85][86].…”

Section: Characteristics Of the Included Studiesmentioning

confidence: 99%

Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives

et al. 2022

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Background and aim Congenital disorders of glycosylation (CDG) are a large heterogeneous group of about 170 rare inherited metabolic disorders due to defective protein and lipid glycosylation. This study aimed to assemble and summarise available data on the epidemiology of CDG. Methods A set of keywords related to epidemiology and CDG was defined. The keywords were combined through a custom Python script, search through the MEDLINE database, using PubMed as the search engine. The script retrieved the correspondent MEDLINE data from each article, and the relevant information was exported. Next, inclusion and exclusion criteria were set and applied during the selection phase. Finally, epidemiology-related information was extracted and compiled. Results One hundred sixty-five papers on CDG epidemiology were included in this literature review. Most of them reported on the frequency of symptoms in CDG patients followed in cohort studies, on pathogenic variant allelic frequency, and on the prevalence of the disorder in populations. According to this review, the most reported CDG was phosphomannomutase-2 deficiency (PMM2-CDG) followed in descending order by FKTN-CDG, EXT1/EXT2-CDG, ALG6-CDG, and PIGA-CDG. Conclusions We provide an overview on epidemiological data regarding 93 CDG by compiling information from the literature. Generating epidemiological data on CDG is important to appropriately target resources for CDG research and drug development and to support public health decision-making.

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“…Abnormal TIEF test have been associated with liver disease or inherited metabolic disorders affecting liver functions, such as hereditary fructose intolerance and galactosemia [12,13]. In a recent study, 1546 individuals underwent TIEF test [14].…”

Section: Discussionmentioning

confidence: 99%

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

Silver

Bahl

Cordeiro

et al. 2021

Genes

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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.

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

Cited by 12 publications

References 21 publications

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population

Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives

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

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