[Vitamin-responsive epilepsies: an update].
Inborn error of metabolism may produce a complex clinical picture in which epilepsy is only one of the various neurologic manifestations including developmental delay/regression, mental retardation, and movement disorders. However, metabolic epilepsies may dominate the clinical presentation. A specific diagnosis of metabolic disorders in epileptic patients may provide the possibility of specific treatments that can improve seizures. In a few metabolic diseases such as vitamin-responsive epilepsies, epilepsy responds to specific treatments based on supplementation of cofactors. Certain rare vitamin-responsive inborn errors of metabolism may present as early encephalopathy with anticonvulsant-resistant seizures. These include pyridoxine-dependent seizures, pyridoxal-phosphate-dependent seizures, folinic acid-responsive seizures, and biotinidase deficiency. This review discusses our current understanding of these vitamin-responsive epilepsies.
Service de neuropédiatrie, département de pédiatrie, hôpital Militaire, P.O Box 7897, Riyadh 11159, Arabie saoudite. Electronic address: btabarki@hotmail.com.
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Tabarki
Service de réanimation pédiatrique, département de pédiatrie, hôpital Militaire, Riyadh, Arabie saoudite.
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F
Thabet
D001361:Avitaminosis / Q000150:complications*; D001708:Biopterins / Q000031:analogs & derivatives / Q000627:therapeutic use; D043523:Biotinidase / Q000627:therapeutic use; D056947:Enzyme Replacement Therapy; D004827:Epilepsy / Q000188:drug therapy* / Q000209:etiology*; D005492:Folic Acid / Q000627:therapeutic use; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D011736:Pyridoxine / Q000627:therapeutic use; D014803:Vitamin B Complex / Q000627:therapeutic use
D014803:Vitamin B Complex; D001708:Biopterins; D005492:Folic Acid; D043523:Biotinidase; C003402:sapropterin; D011736:Pyridoxine