METABOLOMIC PROFILING OF PATIENTS WITH INBORN ERRORS OF METABOLISM

Glycosylation is an essential metabolic process of building sugar chains and adding them to organic molecules, which happens across all cell types. Defects in glycosylation lead to conditions called Congenital Disorders of Glycosylation (CDG). So far, more than 100 CDGs have been identified, but most of them without effective therapy. In addition, other disorders can lead to secondary CDGs (e.g. galactosemia). Recently, my co-promoter has discovered a new treatment for some types of CDG - galactose, a sugar found in abundant quantities in breast milk. How galactose benefits these patients is still not understood though, as galactose metabolism is complicated, and connected to many biochemical pathways. The aim of this project then is to investigate how galactose therapy works in these patients. In addition, the project aims to assess the therapeutic potential of the products linked to the galactose metabolism in order to test whether alternative treatments would be more effective and/or safer. The project will, therefore, provide insight into what happens to the cells of these patients, how galactose benefits these patients, and what other options we have to treat these patients.

Jaar van publicatie:2021

Toegankelijkheid:Closed