Annotation: Congenital disorders of glycosylation (CDG) are a rapidly expanding severe group of hereditary metabolic disorders that result from abnormal glycosylation of glycoproteins or glycolipids. Currently, mainly due to the development of genomic techniques, more than 200 types of CDG are known. Diagnosis of CDG is often difficult because the clinical manifestations are very heterogeneous and there is no universal laboratory biomarker that would cover a wide spectrum of possible disorders of glycan structures with enormous functional diversity. To establish a definitive diagnosis of CDG, it is often necessary to analyze several biochemical indicators and apply a combination of broad spectrum of laboratory methods. In the presentation, we describe the biochemical and molecular nature of CDG, summarize the currently available diagnostic tools, and present successful experimental approaches.

Contact at IPHYS: RNDr. Tomáš Mráček, Ph.D.; tomas.mracek@fgu.cas.cz