Observational studyJornal de pediatria
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.
Observational study in Jornal de pediatria. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.Molecular genetics & genomic medicine · 2025Review
- A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.JCI insight · 2024Article
- Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.Molecular genetics and metabolism · 2023Article
- Missing heritability of Wilson disease: a search for the uncharacterized mutations.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.Molecular genetics and metabolism reports · 2021Article
- Article
- Manifestations and Management of Hepatic Dysfunction in Congenital Disorders of Glycosylation.Clinical liver disease · 2021Review
- Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population.Molecular genetics and metabolism reports · 2021Article
- Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin.Molecular genetics and metabolism reports · 2020Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo 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.
methodObservational, cross-sectional, retrospective study. The laboratory records of 1,546 individuals (median age=36 months, 25-75 IQR=10-108; males=810) submitted to the TfIEF test during the period were reviewed.
resultsFifty-one individuals (3%) had an altered TfIEF pattern (5±2.8 cases/year; median age=24 months, 25-75 IQR=11-57 months; males=27, 53%). For 14 of them, data on diagnosis conclusion were available (classic galactosemia=4; hereditary fructose intolerance=4; peroxisomal diseases=2; PMM2-CDG=2; MPDU1-CDG=1; SLC35A2-CDG=1).Comparing the cases with the normal and altered TfIEF patterns, there was a higher prevalence of altered cases in the age group from 11 months to 3 years. There was an increase in the likelihood of change in TfIEF, especially in the presence of inverted nipples or liver disease.
conclusionsThe data suggest that the investigation of a case with suspected CDG is a complex problem, being aggravated by the existence of other IEMs (inborn errors of metabolism) associated with altered TfIEF pattern and lack of access to confirmatory tests. The presence of inverted nipples and liver disease, especially in individuals aged 11 months to 3 years, should suggest the need for TfIEF investigation.
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