Epilepsy and inborn errors of metabolism in children.
Epilepsy is a frequent symptom in inborn errors of metabolism, with virtually no specific seizure types or EEG signatures. It is most important to look quickly for those few inborn errors of metabolism in which specific therapies such as supplementation of cofactors or diets can make all the difference. If these investigations remain negative, epilepsy has to be treated with conventional antiepileptic drugs. Still, epilepsy is a potentially treatable symptom of many inborn errors of metabolism, and optimal treatment is of great importance for patients and their families.
Wolf
N I
NI
Department of Child Neurology, VU University Medical Center (VUMC), Postbus 7057, 1007 MB, Amsterdam, The Netherlands. n.wolf@vumc.nl.
García-Cazorla
A
A
Department of Neurology, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
Hoffmann
G F
GF
University Children's Hospital Heidelberg, Heidelberg, Germany.
D000293:Adolescent; D017668:Age of Onset; D002648:Child; D004827:Epilepsy / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology* / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000628:therapy