Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls

Asteggiano, Carla; Papazoglu, Magali; Millón, María Beatriz Bistué; Peralta, Marcela; Azar, Nydia Beatriz; Spécola, Norma Spécola; Guelbert, Norberto; Suldrup, Niels Suldrup; Pereyra, Marcela; Kremer, Raquel Dodelson de

doi:10.1038/s41390-018-0206-6

Cited by 17 publications

(31 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Recurrent infections in PMM2‐CDG appear to be mainly restricted to infancy/early childhood. Recently, two patients who suffered from recurrent respiratory infections and bacterial sepsis during infancy were reported . Infections can be very severe, sometimes leading to death .…”

Section: The Immunological Impact Of Glycosylation Defects—an Update mentioning

confidence: 99%

“…Recently, two patients who suffered from recurrent respiratory infections and bacterial sepsis during infancy were reported . Infections can be very severe, sometimes leading to death . Regarding cellular and biochemical anomalies contributing to the clinical phenotype, hypogammaglobulinemia, T lymphopenia and reduced neutrophil chemotaxis have been reported.…”

Section: The Immunological Impact Of Glycosylation Defects—an Update mentioning

confidence: 99%

“…215,216 Infections can be very severe, sometimes leading to death. 216 Regarding cellular and biochemical anomalies contributing to the clinical phenotype, hypogammaglobulinemia, T lymphopenia and reduced neutrophil chemotaxis have been reported. Altered responses to vaccination have occasionally been described.…”

Section: Pmm2-cdgmentioning

confidence: 99%

See 2 more Smart Citations

CDG and immune response: From bedside to bench and back

Pascoal

Francisco

Ferro

et al. 2019

J of Inher Metab Disea

View full text Add to dashboard Cite

Glycosylation is an essential biological process that adds structural and functional diversity to cells and molecules, participating in physiological processes such as immunity. The immune response is driven and modulated by protein‐attached glycans that mediate cell‐cell interactions, pathogen recognition and cell activation. Therefore, abnormal glycosylation can be associated with deranged immune responses. Within human diseases presenting immunological defects are congenital disorders of glycosylation (CDG), a family of around 130 rare and complex genetic diseases. In this review, we have identified 23 CDG with immunological involvement, characterized by an increased propensity to—often life‐threatening—infection. Inflammatory and autoimmune complications were found in 7 CDG types. CDG natural history(ies) and the mechanisms behind the immunological anomalies are still poorly understood. However, in some cases, alterations in pathogen recognition and intracellular signaling (eg, TGF‐β1, NFAT, and NF‐κB) have been suggested. Targeted therapies to restore immune defects are only available for PGM3‐CDG and SLC35C1‐CDG. Fostering research on glycoimmunology may elucidate the involved pathophysiological mechanisms and open new therapeutic avenues, thus improving CDG patients' quality of life.

show abstract

Section: The Immunological Impact Of Glycosylation Defects—an Update mentioning

confidence: 99%

Section: The Immunological Impact Of Glycosylation Defects—an Update mentioning

confidence: 99%

See 1 more Smart Citation

CDG and immune response: From bedside to bench and back

Pascoal

Francisco

Ferro

et al. 2019

J of Inher Metab Disea

View full text Add to dashboard Cite

show abstract

“…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]. An abnormal TIEF test was identified in 3% (51 out of 1546) of those individuals.…”

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

View full text Add to dashboard Cite

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.

show abstract

“…This not only includes diagnosis in patients, but also carrier screening in couples with infertility or miscarriage issues. In Latin America, few PMM2-CDG cases have been reported, mainly in Argentina and Brazil [ 16 , 17 ].…”

Section: Discussionmentioning

confidence: 99%

Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin

González-Domínguez

Raya-Trigueros

Manrique-Hernández

et al. 2020

Molecular Genetics and Metabolism Reports

View full text Add to dashboard Cite

Congenital Disorders of Glycosylation (CDG) are scarcely reported from Latin America. We here report on a Mexican mestizo with a multi-systemic syndrome including neurological involvement and a type I transferrin (Tf) isoelectric focusing (IEF) pattern. Clinical exome sequencing (CES) showed known compound missense variants in PMM2 c.422G > A (p.R141H) and c.395 T > C (p.I132T), coding for the phosphomanomutase 2 (PMM2). PMM2 catalyzes the conversion of mannose-6-P to mannose-1-P required for the synthesis of GDP-Man and Dol-P-Man, donor substrates for glycosylation reactions. This is the third reported Mexican CDG patient and the first with PMM2-CDG. PMM2 has been recently identified as one of the top 10 genes carrying pathogenic variants in a Mexican population cohort.

show abstract

Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls

Cited by 17 publications

References 29 publications

CDG and immune response: From bedside to bench and back

CDG and immune response: From bedside to bench and back

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

Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin

Contact Info

Product

Resources

About