FV 236. Twenty-five Years Glut1 Deficiency in Neuropediatrics—The Importance for Adult Neurology

Background: Glut1 deficiency is a treatable disorder of brain energy metabolism. A defect in the Glut1 glucose transporter at the blood–brain barrier results in developmental delay, intractable epilepsy, and a complex movement disorder. A ketogenic diet provides ketones as an alternative fuel and thus successfully compensates for the energy deficit.

Aims: Adults with Glut1 deficiency develop symptoms that often differ to those observed in the pediatric phenotype. In particular, paroxysmal, exertion-induced dyskinesias are observed that often are unresponsive to anticonvulsants. Novel treatment strategies are necessary and adult neurology has to be aware of this entity, in particular, regarding the transition from pediatric to adult care.

Conclusion: Twenty-five years after the first description Glut1 deficiency is an entity well established in pediatric neurology. In contrast, adult neurology is hardly aware of this treatable disorder. Transition of patients from pediatric to adult care requires the basic knowledge symptoms and diagnosis of this entity, ketogenic diet treatment, and potential treatment strategies in adult neurology to enable the best care for these patients.