Congenital disorders of glycosylation: Still “hot” in 2020

Congenital disorders of glycosylation (CDG) are inherited metabolic diseases caused by defects in the genes important for the process of protein and lipid glycosylation. With the ever growing number of the known subtypes and discoveries regarding the disease mechanisms and therapy development, it re...

Full description

Saved in:
Bibliographic Details
Published in:Biochimica et biophysica acta. General subjects 2021-01, Vol.1865 (1), p.129751-129751, Article 129751
Main Authors: Ondruskova, Nina, Cechova, Anna, Hansikova, Hana, Honzik, Tomas, Jaeken, Jaak
Format: Article
Language:English
Subjects:
Animals
CDG
Clinical guidelines
Congenital Disorders of Glycosylation - genetics
Congenital Disorders of Glycosylation - metabolism
Congenital Disorders of Glycosylation - pathology
Congenital Disorders of Glycosylation - therapy
Glycosylation
Humans
Lipid Metabolism
Lipids - genetics
Metabolic Networks and Pathways
Mutation
Novel phenotypes
Pathobiomechanism
Proteins - genetics
Proteins - metabolism
Therapy
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Congenital disorders of glycosylation (CDG) are inherited metabolic diseases caused by defects in the genes important for the process of protein and lipid glycosylation. With the ever growing number of the known subtypes and discoveries regarding the disease mechanisms and therapy development, it remains a very active field of study. This review brings an update on the CDG-related research since 2017, describing the novel gene defects, pathobiomechanisms, biomarkers and the patients' phenotypes. We also summarize the clinical guidelines for the most prevalent disorders and the current therapeutical options for the treatable CDG. In the majority of the 23 new CDG, neurological involvement is associated with other organ disease. Increasingly, different aspects of cellular metabolism (e.g., autophagy) are found to be perturbed in multiple CDG. This work highlights the recent trends in the CDG field and comprehensively overviews the up-to-date clinical recommendations. •Over 20 novel CDG have been discovered in the last three years, making a total of 137.•A marked rise is seen in the number of GPI anchor synthesis defects.•A more or less effective therapy is now available for 12 CDG.•A glycosylation defect is often linked to (a) complex cellular perturbance(s).
ISSN:0304-4165
1872-8006
DOI:10.1016/j.bbagen.2020.129751