Wolf Nicole I, Bast Thomas, Surtees Robert
Department of Paediatric Neurology, University Children's Hospital Heidelberg, Germany.
Epileptic Disord. 2005 Jun;7(2):67-81.
Although inborn errors of metabolism are rarely found to be the cause of epilepsy, seizures are a frequent symptom in metabolic disorders. In a few of these, epilepsy responds to specific treatment by diet or supplementation. However, in most, no such treatment is available and conventional antiepileptic drugs must be used, often with no great success. However, because uncontrolled epilepsy will hamper development and may even lead to further cerebral damage, treatment is necessary. Seizure types are rarely specific for a particular metabolic disorder, nor are EEG findings. Other symptoms and findings must be taken into account in order to achieve a diagnosis and, in some cases, specific management. We review the main characteristics of epilepsy due to inborn errors of energy metabolism, to disturbed neuronal function due to accumulation of storage products, to toxic effects and to disturbed neurotransmitter systems. We also discuss vitamin-responsive epilepsies and a number of other metabolic disorders focusing on possible pathogenetic mechanisms and their implication for diagnosis and treatment.
尽管先天性代谢缺陷很少被发现是癫痫的病因，但癫痫发作却是代谢紊乱中常见的症状。在其中一些疾病中，癫痫可通过饮食或补充剂进行特异性治疗。然而，在大多数情况下，并无此类治疗方法，必须使用传统抗癫痫药物，且往往效果不佳。然而，由于未得到控制的癫痫会阻碍发育，甚至可能导致进一步的脑损伤，因此治疗是必要的。癫痫发作类型很少对特定的代谢紊乱具有特异性，脑电图结果也是如此。为了做出诊断以及在某些情况下进行特异性管理，必须考虑其他症状和检查结果。我们回顾了因能量代谢先天性缺陷、因储存产物积累导致神经元功能紊乱、因毒性作用以及因神经递质系统紊乱而引发癫痫的主要特征。我们还讨论了维生素反应性癫痫以及其他一些代谢紊乱，重点关注可能的发病机制及其对诊断和治疗的意义。
