Congenital disorders of glycosylation: Still “hot” in 2020
2021
Ondruskova, Nina | Cechova, Anna | Hansikova, Hana | Honzik, Tomas | Jaeken, Jaak
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.
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