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Review
. 2023 Oct 19;18(1):329.
doi: 10.1186/s13023-023-02879-z.

Congenital disorders of glycosylation (CDG): state of the art in 2022

Rita Francisco  1   2   3 , Sandra Brasil  1   2   3 , Joana Poejo  1 , Jaak Jaeken  4 , Carlota Pascoal  1   2   3 , Paula A Videira  1   2   3 , Vanessa Dos Reis Ferreira  5   6   7
Affiliations
Review

Congenital disorders of glycosylation (CDG): state of the art in 2022

Rita Francisco et al. Orphanet J Rare Dis. .

Abstract

Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases. With a clinical history that dates back over 40 years, it was the recent multi-omics advances that mainly contributed to the fast-paced and encouraging developments in the field. However, much remains to be understood, with targeted therapies' discovery and approval being the most urgent unmet need. In this paper, we present the 2022 state of the art of CDG, including glycosylation pathways, phenotypes, genotypes, inheritance patterns, biomarkers, disease models, and treatments. In light of our current knowledge, it is not always clear whether a specific disease should be classified as a CDG. This can create ambiguity among professionals leading to confusion and misguidance, consequently affecting the patients and their families. This review aims to provide the CDG community with a comprehensive overview of the recent progress made in this field.

Keywords: Congenital disorders of glycosylation (CDG); Disease classification; Nosology; Rare diseases.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Graphical representation of the yearly distribution of the newly reported CDG phenotypes (1994–2022) according to the underlying affected glycosylation pathway(s). The years correspond to when the association between the gene and the phenotype was established
Fig. 2
Fig. 2
Total number of genes and phenotypes related to defects in each glycosylation pathway, namely N-linked glycosylation, O-linked glycosylation, GPI biosynthesis, lipid glycosylation, and other (including multiple) glycosylation defects
Fig. 3
Fig. 3
Organs involved in the different CDG groups. Legend: CNS—central nervous system; GI—gastrointestinal
See this image and copyright information in PMC

References

    1. Ondruskova N, Cechova A, Hansikova H, Honzik T, Jaeken J. Congenital disorders of glycosylation: still “hot” in 2020. Biochim Biophys Acta Gen Subj. 2021;1865:129751. - PubMed
    1. Marques-da-Silva D, Francisco R, Webster D, Dos Reis FV, Jaeken JPT. Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature. J Inherit Metab Dis. 2017;40(5):657–672. - PubMed
    1. Paprocka J, Jezela-Stanek A, Tylki-Szymańska A, Grunewald S. Congenital disorders of glycosylation from a neurological perspective. Brain Sci. 2021;11(1):88. - PMC - PubMed
    1. Marques-da-Silva D, Dos Reis FV, Monticelli M, Janeiro P, Videira PA, Witters P, Jaeken J, Cassiman D. Liver Involvement in congenital disorders of glycosylation: a systematic review. J Inherit Metab Dis. 2017;40(2):195–207. - PubMed
    1. Aebi M, Helenius A, Schenk B, Barone R, Fiumara A, Berger EG, Hennet T, Imbach T, Stutz A, Bjursell C, Uller A, Wahlström JG, Briones P, Cardo E, Clayton P, Winchester B, Cormier-Dalre V, de Lonlay P, Cuer M, Dupré T, Seta N, de Koning T, Dorland L, de Loos F, Kupers L, et al. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International workshop on CDGS. Glycoconj J. 1999;16:669–671. - PubMed

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