PubMed · 14808025
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M RANGIER, P M de TRAVERSE. 1950-12-23. [Pentosuria].. https://pubmed.ncbi.nlm.nih.gov/14808025/
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Congenital disorders of glycosylation (CDG) are a group of inherited disorders caused by defects in the synthesis and processing of the linked glycans of glycoproteins and other molecules. The first patients with CDG were described in 1980. Fifteen years later, phosphomannomutase was found to be the basis of the most frequent type: CDG-Ia. Over the last years, several novel types have been identified related to the N-glycosylation pathway, affecting enzymes or transporters of the cytosol, endoplasmic reticulum or the Golgi compartment. CDGs are multisystemic disorders, mainly affecting the central nervous system. Yet CDG-Ib and Ih are mainly hepato-intestinal diseases. Recently, several defects involving the O-glycosylation pathways have been described, indicating that some congenital muscular dystrophies and neuronal migration disorders are caused by congenital disorders of glycosylation.
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After a brief overview on CDG, this workshop concentrated on the experience with (mostly) known CDG in a European country (the Czech Republic) and on the Australasian experience, on recent developments regarding congenital muscular dystrophies due to O-mannoslyglycan assembly defects, and on new presentations of CDG. It was concluded that we are still at the beginning of 'explosive' research on CDG and that we need to apply new and known technologies to the diagnosis, understanding of pathophysiology, and treatment of CDG.