New knowledge on neurometabolic diseases in childhood

In recent years the aetiology of several neurometabolic disorders leading t o childhood epilepsy and psychomotor retardation has been clarified. Treatm ent approaches have been developed for some diseases. In some cases measura ble metabolite abnormalities in fetal trophoblast or amniotic fluid and cel ls or mutation analyses are now amenable to prenatal diagnosis. The followi ng article gives an overview of some important "new diseases".