Partnership amongst families, researchers and physicians to decipher Congenital Disorders of Glycosylation (CDG)

摘要

The APCDG-DMR (Associacao Portuguesa CDG e outras Doencas Metabolicas Raras) is a non-profit Portuguese organisation for Congenital Disorders of Glycosylation (CDG) and related Rare Metabolic Diseases. CDG are an emerging group of rare inborn errors of due to impaired glycosylation of glycoproteins and glycolipids. Glycosylation, is essential for proteins biological function and the sugar chains act as biosignals for cell-cell communication, intracellular signalling, protein folding or targeting of proteins. Given the overall importance of glycosylation, and considering that the number of genes directly involved in glycan assembly (～250 to 500 genes representing ～1-2% of the total number of human genes) encode many different proteins it is not surprising, that a disruption of the glycosylation machinery can lead to symptoms that vary tremendously, ranging from slight mental retardation to multiorgan and often lethal dysfunction. Early diagnosis of CDG leads to a better understanding of the natural history and to better management of the clinical manifestations. It is also important for genetic counseling. In addition, timely diagnosis is especially warranted in MPI-CDG, the SLC35C1-CDG and PIGM-CDG because there is treatment available for these 3 types.