Our work is focused on the elucidation of inborn errors of metabolism, i.e. diseases due to a genetic defect making that an enzyme of intermediary metabolism is deficient. In this context, one of our goals is to identify the gene encoding enzymes for which this identity is unknown. Another goal is to identify new enzymes, most particularly ‘metabolite repair enzymes’.

Current projects

Emile Van Schaftingen, Maria Veiga da Cunha