Universitätsinstitut für Klinische Chemie - Navigation

Classic galactosemia is the most important inborn error of galactose metabolism and due to the profound deficiency of the enzyme galactose-1-phosphate uridyl-transferase (GALT).

Despite newborn screening and early introduction of diet, only the acute neonatal intoxication syndrome can be treated, whereas the long-term complications including neuropsychological and motor impairment, as well as premature ovarian insufficiency and subfertility in women, cannot be prevented.

Our research engages in a better understanding of the pathomechanisms involved in the neurological and neuropsychological complications by the deep phenotyping at all levels from everyday life to molecular mechanisms, aiming at the development of new treatment approaches and biomarkers for clinical follow up.