Congenital disorders of glycosylation (CDG): Quo vadis?

Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25.


The survey summarizes in its first part the current status of knowledge on the Congenital Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and therapeutic strategies, and pathophysiology. It documents the clinical and basic research activities, and efforts to involve patients and their families. In the second part, it tries to look into the future of CDG. More specific biomarkers are needed for fast CDG diagnosis and treatment monitoring. Whole genome sequencing will play an increasingly important role in the molecular diagnosis of unsolved CDG. Epigenetic defects are expected to join the rapidly expanding genetic and allelic heterogeneity of the CDG family. Novel treatments are urgently needed particularly for PMM2-CDG, the most prevalent CDG. Patient services such as apps should be developed e.g. to document the natural history and monitor treatment. Networking (EURO-CDG, the European Reference Networks (MetabERN)) is an efficient tool to disseminate knowledge and boost collaboration at all levels. The final goal is of course to improve the quality of life of the patients and their families.

Publication types

  • Review

MeSH terms

  • Congenital Disorders of Glycosylation / diagnosis
  • Congenital Disorders of Glycosylation / epidemiology*
  • Congenital Disorders of Glycosylation / genetics*
  • Congenital Disorders of Glycosylation / pathology
  • Glycosylation
  • Humans
  • Mutation / genetics
  • Phosphotransferases (Phosphomutases) / genetics*
  • Quality of Life
  • Surveys and Questionnaires


  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase 2, human