PhD defence Lisette Koens
On the 19th of December, Lisette Koens defended her thesis at the University of Groningen. Her thesis is about late-onset inborn errors of metabolism, and in particular movement disorders and eye movement disorders.
Inborn errors of metabolism are genetic disorders that cause disturbance of a biochemical process in the body. Some of these disorders are detected through neonatal screening, however, this is not available for the majority. For a long time, these disorders were considered to occur only in children, but after improvement of diagnostic methods, they are found to be present in adolescents and adults as well. Unfortunately, it often takes a long time before these patients get the right diagnosis, which is a problem because some inborn errors of metabolism are treatable.
In her thesis, tools to enhance the recognition of IEMs are provided. A new diagnostic approach is presented to improve the detection of late-onset IEMs presenting with a movement disorderAn underlying IEM should be suspected in patients with movement disorders and eye movement disorders. To aid non-neurologists to recognize movement disorders, which is important because they can serve as a clue in the diagnosis of an IEM and they impact quality of life, a diagnostic screening tool is presented.