New patient database for inborn metabolic disorders
Congenital Disorders of Glycosylation (CDG) are inborn metabolic disorders that are characterised by defective glycosylation of serum and cellular proteins. Most types of CDG are multi-system diseases, which can include mental retardation and severe development delay, structural abnormalities of the central nervous system and cardiac defects etc. To characterise glycosylation still further, it is worth pointing out that it is the most complex bio-molecule to occur in living organisms. As such it may be linked to some unrecognised disorders and even to some of the most common diseases. Therefore, the EUROGLYCAN project was aimed to streamline the understanding and diagnosing of CDG, and has thus far created a database with over 400 patient records. The patient database is considered to be the most important deliverable within the EUROGLYCAN project, because amongst many things, it provides a basis for early prevention of disease-associated complications. In addition, it will be able to provide long-term patient follow up and much better recognition of the syndrome at an adult age. Other achievements that were made include the remarkable progress in type CDG-I with the identification of 8 novel defects in the Endoplasmatic Reticulum (ER). Further, models in yeast have also been established, which means that there are new tools available for the study of glycosylation defects. The database will be maintained by the reference centre and made accessible through the Internet; its material will then be reviewed, whilst a depository of cell lines will also be generated. These and other achievements now mean that it will be possible to promote early diagnosis for the future, identify novel CDG types from patient information and provide increase awareness to CDG.
