ArticleOrphanet journal of rare diseases2021
Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Glycoproteomics and Functional Characterization of Novel Variants in Siblings with ALG1-CDG.Biomolecules · 2026Article
- Repurposing the HMG-CoA reductase inhibitor atorvastatin for SRD5A3-congenital disorder of glycosylation.Communications medicine · 2026Article
- NovelHuman mutation · 2026Article
- ALG13 Deficiency and Epilepsy-Related Cognitive Impairment: Role of the DDIT4-Mediated PI3K/AKT/mTOR Pathway.Neurochemical research · 2025Article
- Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.Orphanet journal of rare diseases · 2024Article
- Article
- Normal transferrin glycosylation does not rule out severe ALG1 deficiency.JIMD reports · 2024Article
- Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.Molecular biology reports · 2024Article
- Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.Frontiers in immunology · 2024Review
- Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation.European journal of human genetics : EJHG · 2023Article
- A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.Molecular genetics & genomic medicine · 2023Review
- [Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- Neurological Consequences of Congenital Disorders of Glycosylation.Advances in neurobiology · 2023Article
- Phylogenetic analysis of promoter regions of humanOpen life sciences · 2023Article
- A rare case of SRD5A3-CDG in a patient with ataxia and telangiectasia: A case report.Clinical case reports · 2022Article
- Nutrition interventions in congenital disorders of glycosylation.Trends in molecular medicine · 2022Review
- Anthropometric Phenotype of Patients with PMM2-CDG.Children (Basel, Switzerland) · 2021Article
- Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population.Molecular genetics and metabolism reports · 2021Article
- Congenital Disorders of Glycosylation: What Clinicians Need to Know?Frontiers in pediatrics · 2021Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids. Our study aimed to describe the clinical, biochemical, and molecular findings of CDG patients, and to present the long-term follow-up. MATERIAL AND
methodsA single-center study (1995-2019 years) of patients with congenital disorders of N-glycosylation and combined N- and O-hypoglycosylation was performed.
resultsAmong 32 patients included into the study, there were 12 PMM2-CDG, 3 ALG13-CDG, 3 ALG1-CDG, 1 ALG3-CDG, 3 MPI-CDG, 1 PGM1-CDG, 4 SRD5A3-CDG, 1 DPAGT1-CDG, 3 ATP6AP1-CDG, 1 ATP6V0A2-CDG. The phenotypic and genotypic spectrum during long-term (in some cases over 20 years) observation was characterised and several measurements of serum Tf isoforms taken. Statistical analysis revealed strong negative correlation between asialo-Tf and tetrasialo-Tf, as well as between disialo-Tf and tetrasialo-Tf. Within CDG type I, no difference in % Tf isoforms was revealed between PMM2-CDG and non-PMM2-CDG patients. However, these two groups differed significantly in such diagnostic features as: cerebellar ataxia, failure to thrive, hypothyroidism, pericardial effusion, cardiomyopathy, inverted nipples, prolonged INR. The effect of treatment with mannose in 2 patients with MPI-CDG was assessed and we found that % of asialo-Tf, monosialo-Tf, and disialo-Tf was significantly lowered, whereas tetrasialo-Tf and pentasialo-Tf rose, coming closer or falling into the reference range.
conclusionsThe novel finding was an abnormal Tf IEF pattern in two ALG13-CDG patients and normal in one ALG1-CDG patient. Clinical manifestation of presented CDG patients was similar to that reported in the literature. Mannose supplementation in MPI-CDG patients, as well as galactose supplementation in PGM1-CDG patient, improved patients' clinical picture and Tf isoform profiles.
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