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

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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.
Original languageEnglish
Article number329
Number of pages9
JournalOrphanet Journal of Rare Diseases
Volume18
Issue number1
DOIs
Publication statusPublished - Dec 2023

Keywords

  • Congenital disorders of glycosylation (CDG)
  • Disease classification
  • Nosology
  • Rare diseases

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